chr13:113772728:C>A Detail (hg19) (F7)

Information

Genome

Assembly Position
hg19 chr13:113,772,728-113,772,728
hg38 chr13:113,118,414-113,118,414 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000131.4:c.807C>A NP_000122.1:p.Gly269=
NM_001267554.1:c.555C>A NP_001254483.1:p.Gly185=
NR_051961.1:c.555C>A
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 613878 OMIM
HGNC 3544 HGNC
Ensembl ENSG00000057593 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
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.048 myocardial infarction None of the 9 polymorphisms of genes encoding proteins involved in coagulation (... BeFree 12615788 Detail
0.007 myocardial infarction None of the 9 polymorphisms of genes encoding proteins involved in coagulation (... BeFree 12615788 Detail
0.069 myocardial infarction None of the 9 polymorphisms of genes encoding proteins involved in coagulation (... BeFree 12615788 Detail
0.003 myocardial infarction None of the 9 polymorphisms of genes encoding proteins involved in coagulation (... BeFree 12615788 Detail
0.001 acute myocardial infarction Associations of the known polymorphisms of the coagulation factor VII (FVII) gen... BeFree 12486862 Detail
<0.001 acute myocardial infarction Associations of the known polymorphisms of the coagulation factor VII (FVII) gen... BeFree 12486862 Detail
Annotation

Annotations

DescrptionSourceLinks
None of the 9 polymorphisms of genes encoding proteins involved in coagulation (G-455A beta-fibrinog... DisGeNET Detail
None of the 9 polymorphisms of genes encoding proteins involved in coagulation (G-455A beta-fibrinog... DisGeNET Detail
None of the 9 polymorphisms of genes encoding proteins involved in coagulation (G-455A beta-fibrinog... DisGeNET Detail
None of the 9 polymorphisms of genes encoding proteins involved in coagulation (G-455A beta-fibrinog... DisGeNET Detail
Associations of the known polymorphisms of the coagulation factor VII (FVII) gene (R353Q), the coagu... DisGeNET Detail
Associations of the known polymorphisms of the coagulation factor VII (FVII) gene (R353Q), the coagu... 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
-
Genome
hg19
Position
chr13:113,772,728-113,772,728
Variant Type
snv
Reference Allele
C
Alternative Allele
A
East Asian Chromosome Counts (ExAC)
8448
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
111766
Allele Counts in All Race (ExAC)
1
Heterozygous Counts in All Race (ExAC)
1
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
8.947264821144176E-6
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