chr4:187201240:G>A Detail (hg19) (F11)

Information

Genome

Assembly Position
hg19 chr4:187,201,240-187,201,240
hg38 chr4:186,280,086-186,280,086 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000128.3:c.830G>A NP_000119.1:p.Gly277Asp
Ensemble ENST00000403665.7:c.830G>A ENST00000403665.7:p.Gly277Asp
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance not provided
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
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.587 factor XI deficiency Revisiting the molecular epidemiology of factor XI deficiency: nine new mutation... UNIPROT 22159456 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000128.4(F11):c.830G>A (p.Gly277Asp) AND not provided ClinVar Detail
Revisiting the molecular epidemiology of factor XI deficiency: nine new mutations and an original la... 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
rs281875248 dbSNP
Genome
hg19
Position
chr4:187,201,240-187,201,240
Variant Type
snv
Reference Allele
G
Alternative Allele
A
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