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NM_000129.3(F13A1):c.1984C>T (p.Arg662Ter)

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Interpretation:
Pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Dec 30, 2010)
Last evaluated:
Jul 15, 1994
Accession:
VCV000016539.1
Variation ID:
16539
Description:
single nucleotide variant
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NM_000129.3(F13A1):c.1984C>T (p.Arg662Ter)

Allele ID
31578
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
6p25.1
Genomic location
6: 6151874 (GRCh38) GRCh38 UCSC
6: 6152107 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000006.11:g.6152107G>A
NC_000006.12:g.6151874G>A
NM_000129.3:c.1984C>T NP_000120.2:p.Arg662Ter nonsense
... more HGVS
Protein change
R662*
Other names
F13A1, ARG661TER
R661*
Canonical SPDI
NC_000006.12:6151873:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00018
Exome Aggregation Consortium (ExAC) 0.00015
The Genome Aggregation Database (gnomAD) 0.00032
Trans-Omics for Precision Medicine (TOPMed) 0.00004
Links
dbSNP: rs267606789
ClinGen: CA126651
OMIM: 134570.0017
Varsome
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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 Jul 15, 1994 RCV000018004.28
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
F13A1 - - GRCh38
GRCh37
162 200

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Jul 15, 1994)
no assertion criteria provided
Method: literature only
FACTOR XIII, A SUBUNIT, DEFICIENCY OF
Allele origin: germline
OMIM
Accession: SCV000038283.2
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
Deficiency in the A-subunit of coagulation factor XIII: two novel point mutations demonstrate different effects on transcript levels. Mikkola H Blood 1994 PMID: 8025280

Text-mined citations for rs267606789...

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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 Mar 28, 2021