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NM_000153.4(GALC):c.1987T>G (p.Trp663Gly) AND Galactosylceramide beta-galactosidase deficiency

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 18, 2018
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000675127.1

Allele description [Variation Report for NM_000153.4(GALC):c.1987T>G (p.Trp663Gly)]

NM_000153.4(GALC):c.1987T>G (p.Trp663Gly)

Gene:
GALC:galactosylceramidase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
14q31.3
Genomic location:
Preferred name:
NM_000153.4(GALC):c.1987T>G (p.Trp663Gly)
HGVS:
  • NC_000014.9:g.87934803A>C
  • NG_011853.3:g.63761T>G
  • NM_000153.4:c.1987T>GMANE SELECT
  • NM_001201401.2:c.1918T>G
  • NM_001201402.2:c.1909T>G
  • NP_000144.2:p.Trp663Gly
  • NP_001188330.1:p.Trp640Gly
  • NP_001188330.1:p.Trp640Gly
  • NP_001188331.1:p.Trp637Gly
  • NC_000014.8:g.88401147A>C
  • NG_011853.2:g.63761T>G
  • NM_000153.3:c.1987T>G
  • NM_001201401.1:c.1918T>G
Protein change:
W637G
Links:
dbSNP: rs1060499761
NCBI 1000 Genomes Browser:
rs1060499761
Molecular consequence:
  • NM_000153.4:c.1987T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001201401.2:c.1918T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001201402.2:c.1909T>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Galactosylceramide beta-galactosidase deficiency
Synonyms:
Krabbe leukodystrophy; Globoid cell leukoencephalopathy; Galactocerebrosidase deficiency; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009499; MedGen: C0023521; Orphanet: 487; OMIM: 245200

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000800697Counsyl
criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))		Uncertain significance
(Apr 18, 2018) 		unknownclinical testing

PubMed (1)
[See all records that cite this PMID]

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease.

Karaca E, Harel T, Pehlivan D, Jhangiani SN, Gambin T, Coban Akdemir Z, Gonzaga-Jauregui C, Erdin S, Bayram Y, Campbell IM, Hunter JV, Atik MM, Van Esch H, Yuan B, Wiszniewski W, Isikay S, Yesil G, Yuregir OO, Tug Bozdogan S, Aslan H, Aydin H, Tos T, et al.

Neuron. 2015 Nov 4;88(3):499-513. doi: 10.1016/j.neuron.2015.09.048.

PubMed [citation]
PMID:
26539891
PMCID:
PMC4824012

Details of each submission

From Counsyl, SCV000800697.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 11, 2023