chr4:186288589:T>G Detail (hg38) (F11, F11-AS1)

Information

Genome

Assembly Position
hg19 chr4:187,209,743-187,209,743 View the variant detail on this assembly version.
hg38 chr4:186,288,589-186,288,589

HGVS

Type Transcript Protein
RefSeq NM_000128.3:c.1853T>G NP_000119.1:p.Ile618Ser
Ensemble ENST00000403665.7:c.1853T>G ENST00000403665.7:p.Ile618Ser
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
not provided no assertion provided not provided not provided Detail
Pathogenic 2023-11-29 criteria provided, single submitter F11-related disorder germline Detail
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
NM_000128.4(F11):c.1853T>G (p.Ile618Ser) AND not provided ClinVar Detail
NM_000128.4(F11):c.1853T>G (p.Ile618Ser) AND F11-related disorder ClinVar 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
rs281875276 dbSNP
Genome
hg38
Position
chr4:186,288,589-186,288,589
Variant Type
snv
Reference Allele
T
Alternative Allele
G
Genome browser