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NM_000137.3(FAH):c.607-1G>A

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Mar 11, 2015)
Last evaluated:
Apr 9, 2014
Accession:
VCV000188755.1
Variation ID:
188755
Description:
single nucleotide variant
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NM_000137.3(FAH):c.607-1G>A

Allele ID
186944
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
15q25.1
Genomic location
15: 80172148 (GRCh38) GRCh38 UCSC
15: 80464490 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000015.10:g.80172148G>A
NC_000015.9:g.80464490G>A
NG_012833.1:g.24150G>A
NM_000137.3:c.607-1G>A splice acceptor
Protein change
-
Other names
-
Canonical SPDI
NC_000015.10:80172147:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA273918
dbSNP: rs771712041
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter Apr 9, 2014 RCV000169069.1
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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
(Apr 09, 2014)
criteria provided, single submitter
Method: literature only
Tyrosinemia type I
(Autosomal recessive inheritance)
Allele origin: unknown
Counsyl
Accession: SCV000220234.1
Submitted: (Mar 11, 2015)
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
Hereditary tyrosinemia type 1: novel missense, nonsense and splice consensus mutations in the human fumarylacetoacetate hydrolase gene; variability of the genotype-phenotype relationship. Ploos van Amstel JK Human genetics 1996 PMID: 8557261

Text-mined citations for rs771712041...

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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