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NM_000137.3(FAH):c.14del (p.Pro5fs)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Nov 23, 2016)
Last evaluated:
Oct 11, 2016
Accession:
VCV000371526.1
Variation ID:
371526
Description:
1bp deletion
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NM_000137.3(FAH):c.14del (p.Pro5fs)

Allele ID
358326
Variant type
Deletion
Variant length
1 bp
Cytogenetic location
15q25.1
Genomic location
15: 80153066 (GRCh38) GRCh38 UCSC
15: 80445408 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000015.10:g.80153068del
NC_000015.9:g.80445410del
NG_012833.1:g.5070del
NM_000137.3:c.14del NP_000128.1:p.Pro5fs frameshift
Protein change
P5fs
Other names
-
Canonical SPDI
NC_000015.10:80153065:CCC:CC
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA16041752
dbSNP: rs1057517341
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 Oct 11, 2016 RCV000410365.1
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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
(Oct 11, 2016)
criteria provided, single submitter
Method: clinical testing
Tyrosinemia type I
Allele origin: unknown
Counsyl
Accession: SCV000487132.1
Submitted: (Nov 23, 2016)
Evidence details

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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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs1057517341...

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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