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NM_000129.3(F13A1):c.782G>A (p.Arg261His)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Feb 1, 2019)
Last evaluated:
Sep 28, 2016
Accession:
VCV000016531.2
Variation ID:
16531
Description:
single nucleotide variant
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NM_000129.3(F13A1):c.782G>A (p.Arg261His)

Allele ID
31570
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
6p25.1
Genomic location
6: 6248328 (GRCh38) GRCh38 UCSC
6: 6248561 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_549:g.77364G>A
NC_000006.11:g.6248561C>T
NC_000006.12:g.6248328C>T
... more HGVS
Protein change
R261H
Other names
F13A1, ARG260HIS
R260H
Canonical SPDI
NC_000006.12:6248327:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00001
Links
OMIM: 134570.0009
dbSNP: rs121913071
ClinGen: CA126633
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 2 criteria provided, single submitter Sep 28, 2016 RCV000017995.31
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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
Uncertain significance
(Sep 28, 2016)
criteria provided, single submitter
Method: clinical testing
Factor XIII, A subunit, deficiency of
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000464376.3
Submitted: (Feb 01, 2019)
Evidence details
Publications
PubMed (2)
Comment:
The F13A1 c.782G>A (p.Arg261His) variant is a missense variant that has been reported in two studies, in which it was found in a homozygous state … (more)
Pathogenic
(Jan 01, 1999)
no assertion criteria provided
Method: literature only
FACTOR XIII, A SUBUNIT, DEFICIENCY OF
Allele origin: germline
OMIM
Accession: SCV000038274.2
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
Phenotype-genotype characterization of 10 families with severe a subunit factor XIII deficiency. Peyvandi F Human mutation 2004 PMID: 14695539
Identification and characterization of two missense mutations causing factor XIIIA deficiency. Kangsadalampai S British journal of haematology 1999 PMID: 10027709

Text-mined citations for rs121913071...

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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