NM_000155.4(GALT):c.134C>A (p.Ser45Ter) AND Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase

Clinical significance:Pathogenic (Last evaluated: May 28, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000988177.1

Allele description [Variation Report for NM_000155.4(GALT):c.134C>A (p.Ser45Ter)]

NM_000155.4(GALT):c.134C>A (p.Ser45Ter)

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.134C>A (p.Ser45Ter)
HGVS:
  • NC_000009.12:g.34647140C>A
  • NG_009029.2:g.5552C>A
  • NM_000155.4:c.134C>AMANE SELECT
  • NM_001258332.2:c.-69C>A
  • NP_000146.2:p.Ser45Ter
  • NC_000009.11:g.34647137C>A
Protein change:
S45*
Links:
dbSNP: rs111033652
NCBI 1000 Genomes Browser:
rs111033652
Molecular consequence:
  • NM_001258332.2:c.-69C>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_000155.4:c.134C>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

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001137802Mendelicscriteria provided, single submitter
Pathogenic
(May 28, 2019)
unknownclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From Mendelics, SCV001137802.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 30, 2021

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