• delete

NM_000155.4(GALT):c.920C>A (p.Ser307Ter) AND Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 4, 2012
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000022231.2

Allele description

NM_000155.4(GALT):c.920C>A (p.Ser307Ter)

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.920C>A (p.Ser307Ter)
HGVS:
  • NC_000009.12:g.34649425C>A
  • NG_009029.2:g.7837C>A
  • NG_028966.1:g.2241C>A
  • NM_000155.4:c.920C>AMANE SELECT
  • NM_001258332.2:c.593C>A
  • NP_000146.2:p.Ser307Ter
  • NP_001245261.1:p.Ser198Ter
  • M60091.1:c.920C>A
  • NC_000009.11:g.34649422C>A
Protein change:
S198*
Links:
dbSNP: rs367543265
NCBI 1000 Genomes Browser:
rs367543265
Molecular consequence:
  • NM_000155.4:c.920C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001258332.2:c.593C>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase (GALAC1)
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
SCV000042914Research and Development, ARUP Laboratories
no assertion criteria provided
Pathogenic
(Dec 4, 2012) 		not providedclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Mutations in the galactose-1-phosphate uridyltransferase gene of two families with mild galactosaemia variants.

Sommer M, Gathof BS, Podskarbi T, Giugliani R, Kleinlein B, Shin YS.

J Inherit Metab Dis. 1995;18(5):567-76.

PubMed [citation]
PMID:
8598637

Details of each submission

From Research and Development, ARUP Laboratories, SCV000042914.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

Converted during submission to Pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providednot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 25, 2021