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NM_021734.4(SLC25A19):c.373G>A (p.Gly125Ser)

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Interpretation:
Pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Feb 10, 2012)
Last evaluated:
Sep 1, 2009
Accession:
VCV000030590.1
Variation ID:
30590
Description:
single nucleotide variant
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NM_021734.4(SLC25A19):c.373G>A (p.Gly125Ser)

Allele ID
39547
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
17q25.1
Genomic location
17: 75283509 (GRCh38) GRCh38 UCSC
17: 73279590 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000017.10:g.73279590C>T
NC_000017.11:g.75283509C>T
NM_001126121.2:c.373G>A NP_001119593.1:p.Gly125Ser missense
... more HGVS
Protein change
G125S
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
UniProtKB: Q9HC21#VAR_065125
OMIM: 606521.0002
dbSNP: rs387906944
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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 Sep 1, 2009 RCV000023554.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
SLC25A19 - - GRCh38
GRCh37
46 77

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Sep 01, 2009)
no assertion criteria provided
Method: literature only
THIAMINE METABOLISM DYSFUNCTION SYNDROME 4 (BILATERAL STRIATAL DEGENERATION AND PROGRESSIVE POLYNEUROPATHY TYPE)
Allele origin: germline
OMIM
Accession: SCV000044845.1
Submitted: (Feb 10, 2012)
Evidence details
Publications
PubMed (1)

Citations for this variant

Title Author Journal Year Link
SLC25A19 mutation as a cause of neuropathy and bilateral striatal necrosis. Spiegel R Annals of neurology 2009 PMID: 19798730

Record last updated Aug 16, 2019