Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_000128.3(F11):c.738G>C (p.Trp246Cys)

Help
Interpretation:
not provided​

Review status:
no assertion provided
Submissions:
1 (Most recent: Jun 7, 2012)
Accession:
VCV000068198.1
Variation ID:
68198
Description:
single nucleotide variant
Help

NM_000128.3(F11):c.738G>C (p.Trp246Cys)

Allele ID
79089
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
4q35.2
Genomic location
4: 186276373 (GRCh38) GRCh38 UCSC
4: 187197527 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000004.11:g.187197527G>C
NC_000004.12:g.186276373G>C
NM_000128.3:c.738G>C NP_000119.1:p.Trp246Cys missense
... more HGVS
Protein change
W246C
Other names
-
Canonical SPDI
NC_000004.12:186276372:G:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA219150
UniProtKB: P03951#VAR_012086
UniProtKB/Swiss-Prot: VAR_012086
dbSNP: rs281875279
Varsome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
not provided 1 no assertion provided - RCV000059030.1
Help
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

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
not provided
(-)
no assertion provided
Method: not provided
not provided
Allele origin: not provided
UniProtKB/Swiss-Prot
Accession: SCV000090551.1
Submitted: (Jun 07, 2012)
Evidence details

Functional evidence

Help
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

Help
Title Author Journal Year Link
Identification of a novel mutation in a non-Jewish factor XI deficient kindred. Alhaq A British journal of haematology 1999 PMID: 10027710

Text-mined citations for rs281875279...

Help
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 27, 2019