chr4:187205363:G>T Detail (hg19) (F11)

Information

Genome

Assembly Position
hg19 chr4:187,205,363-187,205,363
hg38 chr4:186,284,209-186,284,209 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000128.3:c.1253G>T NP_000119.1:p.Gly418Val
Ensemble ENST00000403665.7:c.1253G>T ENST00000403665.7:p.Gly418Val
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Likely 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
Likely pathogenic 2021-11-17 criteria provided, multiple submitters, no conflicts Hereditary factor XI deficiency disease unknown 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 Dominant factor XI deficiency caused by mutations in the factor XI catalytic dom... UNIPROT 15026311 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000128.4(F11):c.1253G>T (p.Gly418Val) AND Hereditary factor XI deficiency disease ClinVar Detail
NA DisGeNET Detail
Dominant factor XI deficiency caused by mutations in the factor XI catalytic domain. 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
rs121965071 dbSNP
Genome
hg19
Position
chr4:187,205,363-187,205,363
Variant Type
snv
Reference Allele
G
Alternative Allele
T
Genome browser