chr4:186287720:C>A Detail (hg38) (F11)

Information

Genome

Assembly Position
hg19 chr4:187,208,874-187,208,874 View the variant detail on this assembly version.
hg38 chr4:186,287,720-186,287,720

HGVS

Type Transcript Protein
RefSeq NM_000128.3:c.1613C>A NP_000119.1:p.Pro538His
Ensemble ENST00000403665.7:c.1613C>A ENST00000403665.7:p.Pro538His
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
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
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
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
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
-
Genome
hg38
Position
chr4:186,287,720-186,287,720
Variant Type
snv
Reference Allele
C
Alternative Allele
A
East Asian Chromosome Counts (ExAC)
8642
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
121160
Allele Counts in All Race (ExAC)
1
Heterozygous Counts in All Race (ExAC)
1
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
8.253549026081216E-6
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