NM_000128.4(F11):c.1201T>C (p.Trp401Arg) AND not provided

Germline classification:: not provided (1 submission)
Review status:: no classification provided

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000059004.1

Allele description [Variation Report for NM_000128.4(F11):c.1201T>C (p.Trp401Arg)]

NM_000128.4(F11):c.1201T>C (p.Trp401Arg)

Gene:

F11:coagulation factor XI [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

4q35.2

Genomic location:

Preferred name:

NM_000128.4(F11):c.1201T>C (p.Trp401Arg)

HGVS:

NC_000004.12:g.186284157T>C
NG_008051.1:g.23194T>C
NM_000128.4:c.1201T>CMANE SELECT
NP_000119.1:p.Trp401Arg
NP_000119.1:p.Trp401Arg
LRG_583t1:c.1201T>C
LRG_583:g.23194T>C
LRG_583p1:p.Trp401Arg
NC_000004.11:g.187205311T>C
NM_000128.3:c.1201T>C
P03951:p.Trp401Arg

Protein change:

W401R

Links:

UniProtKB: P03951#VAR_067945; UniProtKB/Swiss-Prot: VAR_067945; dbSNP: rs281875262

NCBI 1000 Genomes Browser:

rs281875262

Molecular consequence:

NM_000128.4:c.1201T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000090525	UniProtKB/Swiss-Prot	no classification provided	not provided	not provided	not provided	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000090525

UniProtKB/Swiss-Prot

no classification provided

not provided

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	not provided	not provided	not provided	not provided	not provided	1	not provided	literature only

Citations

PubMed

Population-specific spectrum of the F11 mutations in Koreans: evidence for a founder effect.

Kim J, Song J, Lyu CJ, Kim YR, Oh SH, Choi YC, Yoo JH, Choi JR, Kim H, Lee KA.

Clin Genet. 2012 Aug;82(2):180-6. doi: 10.1111/j.1399-0004.2011.01732.x. Epub 2011 Jun 30.

PubMed [citation]

PMID:: 21668437

Details of each submission

From UniProtKB/Swiss-Prot, SCV000090525.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	not provided	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	not provided	not provided	1	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Apr 23, 2022

ClinVar

Relating variation to medicine