VCV000006039.50 - ClinVar

NM_201631.4(TGM5):c.337G>T (p.Gly113Cys)

Germline

Classification

The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.

(14)

Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.

Pathogenic

criteria provided, multiple submitters, no conflicts

Somatic

No data submitted for somatic clinical impact

Somatic

No data submitted for oncogenicity

Variant Details

Identifiers

NM_201631.4(TGM5):c.337G>T (p.Gly113Cys)

Variation ID: 6039 Accession: VCV000006039.50

Type and length

single nucleotide variant, 1 bp

Location

Cytogenetic: 15q15.2 15: 43260151 (GRCh38) [ NCBI UCSC ] 15: 43552349 (GRCh37) [ NCBI UCSC ]

Timeline in ClinVar

	First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.	Last submission Help The date of the most recent submission for each type of classification for this variant.	Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline	Nov 10, 2014	Dec 22, 2024	Jul 8, 2024

HGVS

Nucleotide	Protein	Molecular consequence
NM_201631.4:c.337G>T MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.	NP_963925.2:p.Gly113Cys	missense
NM_004245.4:c.190+249G>T		intron variant
NC_000015.10:g.43260151C>A
NC_000015.9:g.43552349C>A
NG_016124.1:g.11707G>T
	O43548:p.Gly113Cys

... more HGVS ... less HGVS

Protein change

G113C

Other names

Canonical SPDI

NC_000015.10:43260150:C:A

Functional consequence Help The effect of the variant on RNA or protein function, based on experimental evidence from submitters.

Global minor allele frequency (GMAF) Help The global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.

0.00140 (A)

Allele frequency Help The frequency of the allele represented by this VCV record.

1000 Genomes Project 30x 0.00109

1000 Genomes Project 0.00140

Trans-Omics for Precision Medicine (TOPMed) 0.00202

The Genome Aggregation Database (gnomAD), exomes 0.00235

The Genome Aggregation Database (gnomAD) 0.00252

Exome Aggregation Consortium (ExAC) 0.00260

Links

ClinGen: CA117921 UniProtKB: O43548#VAR_025849 OMIM: 603805.0001 dbSNP: rs112292549 VarSome

Genes

Gene	OMIM	ClinGen Gene Dosage Sensitivity Curation		Variation Viewer Help Links to Variation Viewer, a genome browser to view variation data from NCBI databases.	Related variants
Gene	OMIM	HI score Help The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team.	TS score Help The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team.		Within gene Help The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants.	All Help The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene.
TGM5		-	-	GRCh38 GRCh37	165	187

Conditions - Germline

Condition Help The condition for this variant-condition (RCV) record in ClinVar.	Classification Help The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions)	Review status Help The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status.	Last evaluated Help The most recent date that a submitter evaluated this variant for the condition.	Variation/condition record Help The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page.
Acral peeling skin syndrome	Pathogenic (8)	criteria provided, multiple submitters, no conflicts	Jul 8, 2024	RCV000006411.22
not provided	Pathogenic (4)	criteria provided, multiple submitters, no conflicts	Jun 22, 2023	RCV000340380.28
TGM5-related disorder	Pathogenic (1)	criteria provided, single submitter	Jun 9, 2023	RCV003398452.4
Inborn genetic diseases	Pathogenic (1)	criteria provided, single submitter	Oct 3, 2016	RCV000623924.4

Submissions - Germline

Classification Help The submitted germline classification for each SCV record. (Last evaluated)	Review status Help Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria)	Condition Help The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant.	Submitter Help The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar.	More information Help This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter.
Pathogenic (May 04, 2022)	criteria provided, single submitter (Mendelics Assertion Criteria 2019) Method: clinical testing	Acral peeling skin syndrome Affected status: unknown Allele origin: germline	Mendelics Accession: SCV002519866.1 First in ClinVar: May 28, 2022 Last updated: May 28, 2022
Pathogenic (Oct 03, 2016)	criteria provided, single submitter (Ambry exome assertion method (8-5-2015)) Method: clinical testing	Inborn genetic diseases Affected status: yes Allele origin: germline	Ambry Genetics Accession: SCV000741601.3 First in ClinVar: Apr 15, 2018 Last updated: Jan 07, 2023	Publications: PubMed (1) PubMed: 16380904 Number of individuals with the variant: 1 Clinical Features: Eczema (present) , Abnormal blistering of the skin (present) , Allergy (present) Sex: male Ethnicity/Population group: Unknown
Pathogenic (Oct 17, 2022)	criteria provided, single submitter (ACMG Guidelines, 2015) Method: clinical testing	not provided Affected status: not provided Allele origin: germline	Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden Accession: SCV004026188.1 First in ClinVar: Aug 19, 2023 Last updated: Aug 19, 2023	Comment: PM3, PS3, PP4, PP3, PS4
Pathogenic (Oct 07, 2021)	criteria provided, single submitter (ACMG Guidelines, 2015) Method: clinical testing	Acral peeling skin syndrome Affected status: unknown Allele origin: germline	Revvity Omics, Revvity Accession: SCV002018966.3 First in ClinVar: Nov 29, 2021 Last updated: Feb 04, 2024
Pathogenic (Jun 01, 2023)	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2) Method: clinical testing	not provided Affected status: yes Allele origin: germline	CeGaT Center for Human Genetics Tuebingen Accession: SCV001249030.27 First in ClinVar: May 12, 2020 Last updated: Dec 22, 2024	Comment: TGM5: PM3:Very Strong, PM2:Supporting, PP4, PS3:Supporting Number of individuals with the variant: 3
Pathogenic (Oct 18, 2017)	criteria provided, single submitter (ICSL Variant Classification Criteria 09 May 2019) Method: clinical testing	Acral peeling skin syndrome Affected status: unknown Allele origin: germline	Illumina Laboratory Services, Illumina Accession: SCV000391245.3 First in ClinVar: Dec 06, 2016 Last updated: May 24, 2019	Publications: PubMed (7) PubMed: 16380904‚ 22036214‚ 24628291‚ 20164844‚ 22622422‚ 24019772‚ 26707537 Comment: Across a selection of the available literature, the TGM5 c.337G>T (p.Gly113Cys) missense variant, which is a founder variant in the European population, was reported in … (more) Across a selection of the available literature, the TGM5 c.337G>T (p.Gly113Cys) missense variant, which is a founder variant in the European population, was reported in at least 97 patients, including in a homozygous state in at least 91 patients with peeling skin syndrome, in a compound heterozygous state in at least six patients, and in a heterozygous state in six unaffected parents of patients (Cassidy et al. 2005; Kiritsi et al. 2010; van der Velden et al. 2012; Pigors et al. 2012; Kavaklieva et al. 2013; Szczecinska et al. 2014; KopeÄkovÃ¡ et al. 2016). The variant was identified in a heterozygous state in four out of 250 controls and is reported at a frequency of 0.00454 in the European American population of the Exome Sequencing Project. This frequency is higher than expected based on disease prevalence estimates, but may be consistent with under-diagnosis and with the fact that this is a common founder variant. Cassidy et al. (2005) measured enzyme activity for the p.Gly113Cys variant in two different epithelial cell lines and demonstrated that the variant completely abolished activity. Based on the collective evidence, the p.Gly113Cys variant is classified as pathogenic for peeling skin syndrome. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population. (less)
Pathogenic (Mar 08, 2021)	criteria provided, single submitter (GeneDx Variant Classification Process June 2021) Method: clinical testing	Not Provided Affected status: yes Allele origin: germline	GeneDx Accession: SCV000329549.6 First in ClinVar: Dec 06, 2016 Last updated: Apr 17, 2019	Comment: Common variant identified especially in individuals of Northern European descent (Lek et al., 2016); Published functional studies demonstrate that G113C completely abolishes cross-linking activity of … (more) Common variant identified especially in individuals of Northern European descent (Lek et al., 2016); Published functional studies demonstrate that G113C completely abolishes cross-linking activity of the enzyme in transfected epithelial cell lines (Cassidy et al., 2005; van der Velden et al., 2015); This variant is associated with the following publications: (PMID: 16380904, 24019772, 27206604, 26707537, 30688214, 31028847, 20301543, 20220177, 19440220, 22622422, 25510201, 26684698, 22429841, 24628291, 29242947, 31001817, 31980526, 25644735, 20164844, 31589614) (less)
Pathogenic (Nov 01, 2021)	criteria provided, single submitter (ACMG Guidelines, 2015) Method: clinical testing	Acral peeling skin syndrome Affected status: yes Allele origin: germline	Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center Accession: SCV002061667.2 First in ClinVar: Jan 22, 2022 Last updated: Feb 11, 2022	Comment: PM3_strong, PS3, PP1, PP3
Pathogenic (Jun 09, 2023)	criteria provided, single submitter (ACMG Guidelines, 2015) Method: clinical testing	TGM5-related condition Affected status: unknown Allele origin: germline	PreventionGenetics, part of Exact Sciences Accession: SCV004105253.1 First in ClinVar: Nov 20, 2023 Last updated: Nov 20, 2023	Comment: The TGM5 c.337G>T variant is predicted to result in the amino acid substitution p.Gly113Cys. This variant, in either the homozygous or compound heterozygous states with … (more) The TGM5 c.337G>T variant is predicted to result in the amino acid substitution p.Gly113Cys. This variant, in either the homozygous or compound heterozygous states with a second pathogenic variant, has been reported to be causative for acral peeling skin syndrome in multiple unrelated families (Cassidy et al. 2005. PubMed ID: 16380904; Kiritsi et al. 2010. PubMed ID: 20164844; Pigors et al. 2012. PubMed ID: 22622422; Kavaklieva et al. 2013. PubMed ID: 24019772; van der Velden et al 2015. PubMed ID: 25644735; Has et al. 2018. PubMed ID: 29242947). This variant is interpreted as pathogenic. (less)
Pathogenic (Jul 17, 2023)	criteria provided, single submitter (ACMG Guidelines, 2015) Method: clinical testing	Acral peeling skin syndrome (Autosomal recessive inheritance) Affected status: yes Allele origin: germline	Victorian Clinical Genetics Services, Murdoch Childrens Research Institute Additional submitter: Shariant Australia, Australian Genomics Accession: SCV002768500.2 First in ClinVar: Dec 24, 2022 Last updated: Jul 23, 2024	Publications: PubMed (2) PubMed: 16380904‚ 29242947 Comment: Based on the classification scheme VCGS_Germline_v1.3.4, this variant is classified as Pathogenic. Following criteria are met: 0102 - Loss-of-function is a known mechanism of disease … (more) Based on the classification scheme VCGS_Germline_v1.3.4, this variant is classified as Pathogenic. Following criteria are met: 0102 - Loss-of-function is a known mechanism of disease for this gene and is associated with peeling skin syndrome 2 (MIM#609796). (I) 0106 - This gene is known to be associated with autosomal recessive disease. (I) 0200 - Variant is predicted to result in a missense amino acid change from glycine to cysteine. (I) 0251 - This variant is heterozygous. (I) 0304 - Variant is present in gnomAD (v2) <0.01 for a recessive condition (657 heterozygotes, 2 homozygotes). (SP) 0501 - Missense variant consistently predicted to be damaging by multiple in silico tools or highly conserved with a major amino acid change. (SP) 0600 - Variant is located in the annotated N-terminal transglutaminase domain (NCBI). (I) 0705 - No comparable variants have previous evidence for pathogenicity. (I) 0801 - This variant has strong previous evidence of pathogenicity in unrelated individuals. This variant has been reported as homozygous and compound heterozygous in individuals with peeling skin syndrome (ClinVar, PMID: 29242947). (SP) 1002 - Moderate functional evidence supporting abnormal protein function. Transfected cell lines displayed complete loss of enzyme activity (PMID: 16380904). (SP) 1208 - Inheritance information for this variant is not currently available. (I) Legend: (SP) - Supporting pathogenic, (I) - Information, (SB) - Supporting benign (less)
Pathogenic (Jun 22, 2023)	criteria provided, single submitter (ACMG Guidelines, 2015) Method: clinical testing	not provided Affected status: yes Allele origin: germline	Clinical Genetics Laboratory, Skane University Hospital Lund Accession: SCV005198783.1 First in ClinVar: Aug 25, 2024 Last updated: Aug 25, 2024
Pathogenic (Jul 08, 2024)	criteria provided, single submitter (ACMG Guidelines, 2015) Method: clinical testing	Acral peeling skin syndrome (Autosomal recessive inheritance) Affected status: yes Allele origin: unknown	Institute of Human Genetics, University of Leipzig Medical Center Accession: SCV005368343.1 First in ClinVar: Oct 13, 2024 Last updated: Oct 13, 2024	Comment: Criteria applied: PM3_VSTR,PS3_SUP,PP3 Clinical Features: Abnormal blistering of the skin (present) Sex: female
Pathogenic (Oct 01, 2012)	no assertion criteria provided Method: literature only	PEELING SKIN SYNDROME 2 Affected status: not provided Allele origin: germline	OMIM Accession: SCV000026594.2 First in ClinVar: Apr 04, 2013 Last updated: Nov 10, 2014	Publications: PubMed (5) PubMed: 16380904‚ 20164844‚ 22036214‚ 19440220‚ 22622422 Comment on evidence: Cassidy et al. (2005) described a homozygous missense mutation in exon 3 of the TGM5 gene in members of 2 unrelated families, 1 Dutch and … (more) Cassidy et al. (2005) described a homozygous missense mutation in exon 3 of the TGM5 gene in members of 2 unrelated families, 1 Dutch and 1 Scottish, who suffered from an acral form of peeling skin syndrome (PSS2; 609796). A gly113-to-cys (G113C) mutation arose from a c.337G-T transversion. In fact, 2 homozygous missense mutations were found; functional analysis in 2 different cell lines demonstrated that one was a rare polymorphism that did not significantly reduce TGM5 activity, whereas the G113C mutant, which completely abolished crosslinking activity, was the pathogenic change. In 6 unrelated children and 1 adult patient from Germany and a 1-year-old child from Finland with blistering and peeling acral skin, Kiritsi et al. (2010) identified homozygosity for the G113C mutation in the TGM5 gene. In a 2-year-old Swedish child, they detected compound heterozygosity for G113C and a c.763T-C transition in TGM5 that resulted in a trp255-to-arg substitution (W255R; 603805.0003) at a conserved residue within the core domain close to the catalytic site. Immunofluorescence staining of patient skin demonstrated that mutant TGM5 was restricted to a few cell layers compared to wildtype. In addition, loricrin (LOR; 152445), involucrin (IVL; 147360), and filaggrin (FLG; 135940) were all distributed more diffusely in patient skin samples compared to controls. In 6 patients from 6 unrelated families with acral peeling skin syndrome, van der Velden et al. (2012) identified homozygosity for the G113C mutation in the TGM5 gene, as well as homozygosity for the T109M polymorphism. Genealogic research dating to the year 1650 revealed no consanguinity between the families. Haplotype analysis of these 6 families, including 5 from the Netherlands and 1 from Germany, as well as of the 2 Dutch and Scottish families previously studied by Cassidy et al. (2005), revealed that all mutation carriers were homozygous for an approximately 0.16-Mb region that begins centromeric of and includes the TGM5 gene. Van der Velden et al. (2012) noted that in contrast to the 2 Tunisian patients (603805.0002) reported by Kharfi et al. (2009), all 21 reported European acral peeling skin syndrome patients carried the G113C mutation linked to the T109M variant, suggesting an ancestral founder mutation in the European population. In 7 patients with acral peeling skin syndrome, including 4 Germans, 1 Spaniard, 1 Slovakian, and 1 Hungarian, Pigors et al. (2012) identified homozygosity for the G113C substitution in the TGM5 gene. In addition, 2 German patients were compound heterozygous for G113C and another mutation in TGM5: a 7-year-old patient also carried a c.122T-C transition in exon 2, resulting in a leu41-to-pro substitution (L41P; 603805.0004) that was not found in 100 controls; and a 12-year-old patient carried a 1-bp deletion in TGM5 (640delC; 603805.0005) on the second TGM5 allele. The unaffected parents from 3 families were available for study, and each was heterozygous for 1 of the mutations carried by their offspring. Functional analysis in patient keratinocytes demonstrated a decrease in TGase activity at the pH optimal for TGM5; in addition, there was upregulation of the TGM5 substrates LOR and IVL as well as of KRT1 (139350), KRT10 (148080), and corneodesmosin (CDSN; 602593) in patient keratinocytes compared to controls. (less)
not provided (-)	no classification provided Method: literature only	Acral peeling skin syndrome Affected status: yes Allele origin: germline	GeneReviews Accession: SCV000322809.2 First in ClinVar: Oct 11, 2015 Last updated: Oct 01, 2022	Publications: PubMed (1) PubMed: 24628291 BookShelf: NBK1369 BookShelf: NBK1369
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Comment:

Across a selection of the available literature, the TGM5 c.337G>T (p.Gly113Cys) missense variant, which is a founder variant in the European population, was reported in at least 97 patients, including in a homozygous state in at least 91 patients with peeling skin syndrome, in a compound heterozygous state in at least six patients, and in a heterozygous state in six unaffected parents of patients (Cassidy et al. 2005; Kiritsi et al. 2010; van der Velden et al. 2012; Pigors et al. 2012; Kavaklieva et al. 2013; Szczecinska et al. 2014; KopeÄkovÃ¡ et al. 2016). The variant was identified in a heterozygous state in four out of 250 controls and is reported at a frequency of 0.00454 in the European American population of the Exome Sequencing Project. This frequency is higher than expected based on disease prevalence estimates, but may be consistent with under-diagnosis and with the fact that this is a common founder variant. Cassidy et al. (2005) measured enzyme activity for the p.Gly113Cys variant in two different epithelial cell lines and demonstrated that the variant completely abolished activity. Based on the collective evidence, the p.Gly113Cys variant is classified as pathogenic for peeling skin syndrome. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.

Comment:

Common variant identified especially in individuals of Northern European descent (Lek et al., 2016); Published functional studies demonstrate that G113C completely abolishes cross-linking activity of the enzyme in transfected epithelial cell lines (Cassidy et al., 2005; van der Velden et al., 2015); This variant is associated with the following publications: (PMID: 16380904, 24019772, 27206604, 26707537, 30688214, 31028847, 20301543, 20220177, 19440220, 22622422, 25510201, 26684698, 22429841, 24628291, 29242947, 31001817, 31980526, 25644735, 20164844, 31589614)

Comment:

The TGM5 c.337G>T variant is predicted to result in the amino acid substitution p.Gly113Cys. This variant, in either the homozygous or compound heterozygous states with a second pathogenic variant, has been reported to be causative for acral peeling skin syndrome in multiple unrelated families (Cassidy et al. 2005. PubMed ID: 16380904; Kiritsi et al. 2010. PubMed ID: 20164844; Pigors et al. 2012. PubMed ID: 22622422; Kavaklieva et al. 2013. PubMed ID: 24019772; van der Velden et al 2015. PubMed ID: 25644735; Has et al. 2018. PubMed ID: 29242947). This variant is interpreted as pathogenic.

Comment:

Based on the classification scheme VCGS_Germline_v1.3.4, this variant is classified as Pathogenic. Following criteria are met: 0102 - Loss-of-function is a known mechanism of disease for this gene and is associated with peeling skin syndrome 2 (MIM#609796). (I) 0106 - This gene is known to be associated with autosomal recessive disease. (I) 0200 - Variant is predicted to result in a missense amino acid change from glycine to cysteine. (I) 0251 - This variant is heterozygous. (I) 0304 - Variant is present in gnomAD (v2) <0.01 for a recessive condition (657 heterozygotes, 2 homozygotes). (SP) 0501 - Missense variant consistently predicted to be damaging by multiple in silico tools or highly conserved with a major amino acid change. (SP) 0600 - Variant is located in the annotated N-terminal transglutaminase domain (NCBI). (I) 0705 - No comparable variants have previous evidence for pathogenicity. (I) 0801 - This variant has strong previous evidence of pathogenicity in unrelated individuals. This variant has been reported as homozygous and compound heterozygous in individuals with peeling skin syndrome (ClinVar, PMID: 29242947). (SP) 1002 - Moderate functional evidence supporting abnormal protein function. Transfected cell lines displayed complete loss of enzyme activity (PMID: 16380904). (SP) 1208 - Inheritance information for this variant is not currently available. (I) Legend: (SP) - Supporting pathogenic, (I) - Information, (SB) - Supporting benign

Germline Functional Evidence

There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Comment:

Citations for germline classification of this variant

Title	Author	Journal	Year	Link
Epidermolysis Bullosa Simplex.	Adam MP	-	2022	PMID: 20301543
The Position of Targeted Next-generation Sequencing in Epidermolysis Bullosa Diagnosis.	Has C	Acta dermato-venereologica	2018	PMID: 29242947
Ten years of DNA diagnostics of epidermolysis bullosa in the Czech Republic.	Kopečková L	The British journal of dermatology	2016	PMID: 26707537
Under-recognition of acral peeling skin syndrome: 59 new cases with 15 novel mutations.	Szczecinska W	The British journal of dermatology	2014	PMID: 24628291
Acral peeling skin syndrome resembling epidermolysis bullosa simplex in a 10-month-old boy.	Kavaklieva S	Case reports in dermatology	2013	PMID: 24019772
TGM5 mutations impact epidermal differentiation in acral peeling skin syndrome.	Pigors M	The Journal of investigative dermatology	2012	PMID: 22622422
A recurrent mutation in the TGM5 gene in European patients with acral peeling skin syndrome.	van der Velden JJ	Journal of dermatological science	2012	PMID: 22036214
Acral peeling skin syndrome with TGM5 gene mutations may resemble epidermolysis bullosa simplex in young individuals.	Kiritsi D	The Journal of investigative dermatology	2010	PMID: 20164844
A missense mutation in TGM5 causes acral peeling skin syndrome in a Tunisian family.	Kharfi M	The Journal of investigative dermatology	2009	PMID: 19440220
A homozygous missense mutation in TGM5 abolishes epidermal transglutaminase 5 activity and causes acral peeling skin syndrome.	Cassidy AJ	American journal of human genetics	2005	PMID: 16380904

Text-mined citations for rs112292549 ...

These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Dec 22, 2024

ClinVar Genomic variation as it relates to human health

NM_201631.4(TGM5):c.337G>T (p.Gly113Cys)

Variant Details

Genes

Conditions - Germline

Submissions - Germline

Germline Functional Evidence

Citations for germline classification of this variant

Text-mined citations for rs112292549 ...