NM_000155.3(GALT):c.265T>G (p.Tyr89Asp) AND Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase

Clinical significance:Pathogenic (Last evaluated: Dec 4, 2012)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000022074.1

Allele description [Variation Report for NM_000155.3(GALT):c.265T>G (p.Tyr89Asp)]

NM_000155.3(GALT):c.265T>G (p.Tyr89Asp)

Gene:
GALT:galactose-1-phosphate uridylyltransferase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9p13.3
Genomic location:
Preferred name:
NM_000155.3(GALT):c.265T>G (p.Tyr89Asp)
HGVS:
  • NC_000009.12:g.34647504T>G
  • NG_009029.2:g.5916T>G
  • NM_000155.3:c.265T>G
  • NM_001258332.1:c.50+246T>G
  • NP_000146.2:p.Tyr89Asp
  • M60091.1:c.265T>G
  • NC_000009.11:g.34647501T>G
  • NM_000155.2:c.265T>G
Protein change:
Y89D
Links:
dbSNP: rs111033666
NCBI 1000 Genomes Browser:
rs111033666
Molecular consequence:
  • NM_001258332.1:c.50+246T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000155.3:c.265T>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
Synonyms:
GALACTOSE-1-PHOSPHATE URIDYLYLTRANSFERASE DEFICIENCY; GALT deficiency; Galactosemia, classic
Identifiers:
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
SCV000042750ARUP Institute,ARUP Laboratoriesno assertion criteria providedPathogenic
(Dec 4, 2012)
not providedclinical testing

Summary from all submissions

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

Details of each submission

From ARUP Institute,ARUP Laboratories, SCV000042750.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Converted during submission to pathogenic.

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

Last Updated: Jul 21, 2018