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NM_000155.4(GALT):c.27G>C (p.Gln9His) AND Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 8, 2017
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:
RCV000022041.3

Allele description [Variation Report for NM_000155.4(GALT):c.27G>C (p.Gln9His)]

NM_000155.4(GALT):c.27G>C (p.Gln9His)

Gene:
GALT:galactose-1-phosphate uridylyltransferase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9p13.3
Genomic location:
Preferred name:
NM_000155.4(GALT):c.27G>C (p.Gln9His)
HGVS:
  • NC_000009.12:g.34646731G>C
  • NG_009029.2:g.5143G>C
  • NM_000155.4:c.27G>CMANE SELECT
  • NM_001258332.2:c.-176G>C
  • NP_000146.2:p.Gln9His
  • NC_000009.11:g.34646728G>C
  • NM_000155.3:c.27G>C
  • P07902:p.Gln9His
Links:
UniProtKB: P07902#VAR_068531; dbSNP: rs111033637
NCBI 1000 Genomes Browser:
rs111033637
Molecular consequence:
  • NM_001258332.2:c.-176G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_000155.4:c.27G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
Synonyms:
GALACTOSE-1-PHOSPHATE URIDYLYLTRANSFERASE DEFICIENCY; Galactose-1-phosphate uridyltransferase deficiency; Transferase Deficiency Galactosemia; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009258; MedGen: C0268151; Orphanet: 352; Orphanet: 79239; OMIM: 230400

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000795444Counsyl
criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))		Uncertain significance
(Nov 8, 2017) 		unknownclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Molecular basis of classic galactosemia from the structure of human galactose 1-phosphate uridylyltransferase.

McCorvie TJ, Kopec J, Pey AL, Fitzpatrick F, Patel D, Chalk R, Shrestha L, Yue WW.

Hum Mol Genet. 2016 Jun 1;25(11):2234-2244. Epub 2016 Mar 22.

PubMed [citation]
PMID:
27005423
PMCID:
PMC5081055

Mutations at the galactose-1-p-uridyltransferase gene in infants with a positive galactosemia newborn screening test.

Item C, Hagerty BP, Mühl A, Greber-Platzer S, Stöckler-Ipsiroglu S, Strobl W.

Pediatr Res. 2002 Apr;51(4):511-6.

PubMed [citation]
PMID:
11919338

Details of each submission

From Counsyl, SCV000795444.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jul 29, 2023