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NM_000137.3(FAH):c.401C>A (p.Ala134Asp)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Jul 10, 2018)
Last evaluated:
Jul 31, 2017
Accession:
VCV000011866.1
Variation ID:
11866
Description:
single nucleotide variant
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NM_000137.3(FAH):c.401C>A (p.Ala134Asp)

Allele ID
26905
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
15q25.1
Genomic location
15: 80162282 (GRCh38) GRCh38 UCSC
15: 80454624 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
P16930:p.Ala134Asp
NC_000015.10:g.80162282C>A
NC_000015.9:g.80454624C>A
... more HGVS
Protein change
A134D
Other names
-
Canonical SPDI
NC_000015.10:80162281:C:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00000
Exome Aggregation Consortium (ExAC) 0.00001
Links
dbSNP: rs121965074
ClinGen: CA256100
UniProtKB: P16930#VAR_005208
OMIM: 613871.0002
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 2 criteria provided, single submitter Jul 31, 2017 RCV000012641.3
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
FAH - - GRCh38
GRCh37
392 411

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Jul 31, 2017)
criteria provided, single submitter
Method: clinical testing
Tyrosinemia type I
Allele origin: unknown
Counsyl
Accession: SCV000793184.1
Submitted: (Jul 10, 2018)
Evidence details
Publications
PubMed (4)
Pathogenic
(Jul 01, 1993)
no assertion criteria provided
Method: literature only
TYROSINEMIA, TYPE I
Allele origin: germline
OMIM
Accession: SCV000032876.2
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
Structural and functional analysis of missense mutations in fumarylacetoacetate hydrolase, the gene deficient in hereditary tyrosinemia type 1. Bergeron A The Journal of biological chemistry 2001 PMID: 11278491
Crystal structure and mechanism of a carbon-carbon bond hydrolase. Timm DE Structure (London, England : 1993) 1999 PMID: 10508789
Fumarylacetoacetase mutations in tyrosinaemia type I. Rootwelt H Human mutation 1996 PMID: 8829657
Characterization of the human fumarylacetoacetate hydrolase gene and identification of a missense mutation abolishing enzymatic activity. Labelle Y Human molecular genetics 1993 PMID: 8364576

Text-mined citations for rs121965074...

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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 08, 2021