chr4:187205399:C>T Detail (hg19) (F11)

Information

Genome

Assembly Position
hg19 chr4:187,205,399-187,205,399
hg38 chr4:186,284,245-186,284,245 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000128.3:c.1289C>T NP_000119.1:p.Ala430Val
Ensemble ENST00000403665.7:c.1289C>T ENST00000403665.7:p.Ala430Val
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 264900 OMIM
HGNC 3529 HGNC
Ensembl ENSG00000088926 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 1999-12-01 no assertion criteria provided Hereditary factor XI deficiency disease germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.587 factor XI deficiency NA CLINVAR Detail
0.587 factor XI deficiency Genetic analysis in FXI deficiency: six novel mutations and the use of a polymer... UNIPROT 15953011 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000128.4(F11):c.1289C>T (p.Ala430Val) AND Hereditary factor XI deficiency disease ClinVar Detail
NA DisGeNET Detail
Genetic analysis in FXI deficiency: six novel mutations and the use of a polymerase chain reaction-b... DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs121965068 dbSNP
Genome
hg19
Position
chr4:187,205,399-187,205,399
Variant Type
snv
Reference Allele
C
Alternative Allele
T
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