NM_000365.6(TPI1):c.511A>G (p.Ile171Val) AND Triosephosphate isomerase deficiency

Clinical significance:Pathogenic (Last evaluated: Jan 1, 1997)

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:
RCV000013290.25

Allele description [Variation Report for NM_000365.6(TPI1):c.511A>G (p.Ile171Val)]

NM_000365.6(TPI1):c.511A>G (p.Ile171Val)

Gene:
TPI1:triosephosphate isomerase 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12p13.31
Genomic location:
Preferred name:
NM_000365.6(TPI1):c.511A>G (p.Ile171Val)
Other names:
I170V
HGVS:
  • NC_000012.12:g.6869741A>G
  • NG_011948.1:g.7322A>G
  • NG_013308.1:g.8617T>C
  • NM_000365.6:c.511A>GMANE SELECT
  • NM_001159287.1:c.622A>G
  • NM_001258026.2:c.265A>G
  • NP_000356.1:p.Ile171Val
  • NP_001152759.1:p.Ile208Val
  • NP_001244955.1:p.Ile89Val
  • LRG_1126t1:c.511A>G
  • LRG_1126:g.7322A>G
  • LRG_1126p1:p.Ile171Val
  • NC_000012.11:g.6978905A>G
  • P60174:p.Ile208Val
Protein change:
I171V; ILE170VAL
Links:
UniProtKB: P60174#VAR_007539; OMIM: 190450.0005; dbSNP: rs121964849
NCBI 1000 Genomes Browser:
rs121964849
Molecular consequence:
  • NM_000365.6:c.511A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001159287.1:c.622A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001258026.2:c.265A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Triosephosphate isomerase deficiency (TPID)
Identifiers:
MONDO: MONDO:0014221; MedGen: C1860808; Orphanet: 868; OMIM: 615512

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000033537OMIMno assertion criteria providedPathogenic
(Jan 1, 1997)
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

Evidence for founder effect of the Glu104Asp substitution and identification of new mutations in triosephosphate isomerase deficiency.

Arya R, Lalloz MR, Bellingham AJ, Layton DM.

Hum Mutat. 1997;10(4):290-4.

PubMed [citation]
PMID:
9338582

Details of each submission

From OMIM, SCV000033537.4

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

Description

In a family with triosephosphate isomerase deficiency (TPID; 615512), Arya et al. (1997) found that affected individuals showed compound heterozygosity for the common glu104-to-asp substitution (E104D; 190450.0001) and a novel ile170-to-val (I170V) missense mutation.

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

Last Updated: Oct 24, 2021

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