chr4:186284167:C>A Detail (hg38) (F11)

Information

Genome

Assembly Position
hg19 chr4:187,205,321-187,205,321 View the variant detail on this assembly version.
hg38 chr4:186,284,167-186,284,167

HGVS

Type Transcript Protein
RefSeq NM_000128.3:c.1211C>A NP_000119.1:p.Thr404Asn
Ensemble ENST00000403665.7:c.1211C>A ENST00000403665.7:p.Thr404Asn
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 tgv255917059 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 1997-12-01 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 Severe factor XI deficiency in an Arab family associated with a novel mutation i... UNIPROT 9401068 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000128.4(F11):c.1211C>A (p.Thr404Asn) AND Hereditary factor XI deficiency disease ClinVar Detail
NA DisGeNET Detail
Severe factor XI deficiency in an Arab family associated with a novel mutation in exon 11. 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
rs121965067 dbSNP
Genome
hg38
Position
chr4:186,284,167-186,284,167
Variant Type
snv
Reference Allele
C
Alternative Allele
A
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