NM_006755.2(TALDO1):c.931G>T (p.Gly311Trp) AND Deficiency of transaldolase

Clinical significance:Pathogenic (Last evaluated: Jun 2, 2020)

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:
RCV000767871.3

Allele description [Variation Report for NM_006755.2(TALDO1):c.931G>T (p.Gly311Trp)]

NM_006755.2(TALDO1):c.931G>T (p.Gly311Trp)

Gene:
TALDO1:transaldolase 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11p15.5
Genomic location:
Preferred name:
NM_006755.2(TALDO1):c.931G>T (p.Gly311Trp)
HGVS:
  • NC_000011.10:g.764383G>T
  • NG_008160.1:g.21952G>T
  • NM_006755.2:c.931G>TMANE SELECT
  • NP_006746.1:p.Gly311Trp
  • NC_000011.9:g.764383G>T
  • NM_006755.1:c.931G>T
Protein change:
G311W; GLY311TRP
Links:
OMIM: 602063.0003; dbSNP: rs753787975
NCBI 1000 Genomes Browser:
rs753787975
Molecular consequence:
  • NM_006755.2:c.931G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Deficiency of transaldolase (TALDOD)
Synonyms:
EYAID SYNDROME
Identifiers:
MONDO: MONDO:0011624; MedGen: C1291329; Orphanet: 101028; OMIM: 606003

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000898483OMIMno assertion criteria providedPathogenic
(Jun 2, 2020)
germlineliterature only

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Apparent Acetaminophen Toxicity in a Patient with Transaldolase Deficiency.

Lee-Barber J, English TE, Britton JF, Sobreira N, Goldstein J, Valle D, Bjornsson HT.

JIMD Rep. 2019;44:9-15. doi: 10.1007/8904_2018_116. Epub 2018 Jun 20.

PubMed [citation]
PMID:
29923087
PMCID:
PMC6323034

Details of each submission

From OMIM, SCV000898483.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

For discussion of the c.931G-T transversion in the TALDO1 gene, resulting in a gly311-to-trp (G311W) substitution, that was found in compound heterozygous state in a patient with transaldolase deficiency (TALDOD; 606003) by Lee-Barber et al. (2019), see 602063.0001.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2021

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