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NM_000128.3(F11):c.188C>T (p.Ala63Val)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Jul 10, 2018)
Last evaluated:
Nov 8, 2017
Accession:
VCV000068191.1
Variation ID:
68191
Description:
single nucleotide variant
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NM_000128.3(F11):c.188C>T (p.Ala63Val)

Allele ID
79082
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
4q35.2
Genomic location
4: 186271741 (GRCh38) GRCh38 UCSC
4: 187192895 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
P03951:p.Ala63Val
LRG_583:g.10778C>T
LRG_583t1:c.188C>T LRG_583p1:p.Ala63Val
... more HGVS
Protein change
A63V
Other names
-
Canonical SPDI
NC_000004.12:186271740:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00001
The Genome Aggregation Database (gnomAD) 0.00003
The Genome Aggregation Database (gnomAD), exomes 0.00000
Links
UniProtKB/Swiss-Prot: VAR_067934
dbSNP: rs281875244
ClinGen: CA219136
UniProtKB: P03951#VAR_067934
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Nov 8, 2017 RCV000670641.1
not provided 1 no assertion provided - RCV000059023.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
F11 - - GRCh38
GRCh37
268 510

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Nov 08, 2017)
criteria provided, single submitter
Method: clinical testing
Hereditary factor XI deficiency disease
Allele origin: unknown
Counsyl
Accession: SCV000795519.1
Submitted: (Jul 10, 2018)
Evidence details
Publications
PubMed (1)
not provided
(-)
no assertion provided
Method: not provided
not provided
Allele origin: not provided
UniProtKB/Swiss-Prot
Accession: SCV000090544.1
Submitted: (Jun 07, 2012)
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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Title Author Journal Year Link
Revisiting the molecular epidemiology of factor XI deficiency: nine new mutations and an original large 4qTer deletion in western Brittany (France). Gu├ęguen P Thrombosis and haemostasis 2012 PMID: 22159456

Text-mined citations for rs281875244...

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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