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NM_000137.3(FAH):c.1190del (p.Gln397fs)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Mar 11, 2015)
Last evaluated:
Jul 31, 2014
Accession:
VCV000188907.1
Variation ID:
188907
Description:
1bp deletion
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NM_000137.3(FAH):c.1190del (p.Gln397fs)

Allele ID
186945
Variant type
Deletion
Variant length
1 bp
Cytogenetic location
15q25.1
Genomic location
15: 80186139 (GRCh38) GRCh38 UCSC
15: 80478481 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000015.10:g.80186139del
NC_000015.9:g.80478481del
NG_012833.1:g.38141del
NM_000137.3:c.1190del NP_000128.1:p.Gln397fs frameshift
Protein change
Q397fs
Other names
-
Canonical SPDI
NC_000015.10:80186138:A:
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00001
Links
ClinGen: CA274111
dbSNP: rs786204551
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 Jul 31, 2014 RCV000169267.1
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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
(Jul 31, 2014)
criteria provided, single submitter
Method: literature only
Tyrosinemia type I
(Autosomal recessive inheritance)
Allele origin: unknown
Counsyl
Accession: SCV000220567.1
Submitted: (Mar 11, 2015)
Evidence details
Publications
PubMed (2)

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
Identification of mutations causing hereditary tyrosinemia type I in patients of Middle Eastern origin. Imtiaz F Molecular genetics and metabolism 2011 PMID: 21764616
Crystal structure and mechanism of a carbon-carbon bond hydrolase. Timm DE Structure (London, England : 1993) 1999 PMID: 10508789

Text-mined citations for rs786204551...

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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