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NM_000365.6(TPI1):c.125G>A (p.Cys42Tyr)

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Interpretation:
Pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Dec 30, 2010)
Last evaluated:
Jan 1, 1997
Accession:
VCV000012471.1
Variation ID:
12471
Description:
single nucleotide variant
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NM_000365.6(TPI1):c.125G>A (p.Cys42Tyr)

Allele ID
27510
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
12p13.31
Genomic location
12: 6868873 (GRCh38) GRCh38 UCSC
12: 6978037 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000012.11:g.6978037G>A
NC_000012.12:g.6868873G>A
NG_011948.1:g.6454G>A
... more HGVS
Protein change
C42Y, C79Y
Other names
C41Y
Canonical SPDI
NC_000012.12:6868872:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00001
The Genome Aggregation Database (gnomAD), exomes 0.00000
Trans-Omics for Precision Medicine (TOPMed) 0.00001
Links
ClinGen: CA122432
UniProtKB: P60174#VAR_007534
OMIM: 190450.0004
dbSNP: rs121964848
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 no assertion criteria provided Jan 1, 1997 RCV000013289.26
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
TPI1 - - GRCh38
GRCh37
59 109

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Jan 01, 1997)
no assertion criteria provided
Method: literature only
TRIOSEPHOSPHATE ISOMERASE DEFICIENCY
Allele origin: germline
OMIM
Accession: SCV000033536.4
Submitted: (Dec 30, 2010)
Evidence details
Publications
PubMed (1)

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
Evidence for founder effect of the Glu104Asp substitution and identification of new mutations in triosephosphate isomerase deficiency. Arya R Human mutation 1997 PMID: 9338582

Text-mined citations for rs121964848...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Oct 24, 2021