chr4:186288518:C>A Detail (hg38) (F11, F11-AS1)

Information

Genome

Assembly Position
hg19 chr4:187,209,672-187,209,672 View the variant detail on this assembly version.
hg38 chr4:186,288,518-186,288,518

HGVS

Type Transcript Protein
RefSeq NM_000128.3:c.1782C>A NP_000119.1:p.Ser594Arg
Ensemble ENST00000403665.7:c.1782C>A ENST00000403665.7:p.Ser594Arg
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic 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
Pathogenic Likely pathogenic 2021-03-03 criteria provided, multiple submitters, no conflicts Hereditary factor XI deficiency disease germline unknown Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.587 factor XI deficiency To determine the utility of single-stranded conformation polymorphism (SSCP) ana... UNIPROT 10606881 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000128.4(F11):c.1782C>A (p.Ser594Arg) AND Hereditary factor XI deficiency disease ClinVar Detail
To determine the utility of single-stranded conformation polymorphism (SSCP) analysis for screening ... 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
rs28934609 dbSNP
Genome
hg38
Position
chr4:186,288,518-186,288,518
Variant Type
snv
Reference Allele
C
Alternative Allele
A
Genome browser