chr13:113772898:G>A Detail (hg19) (F7)

Information

Genome

Assembly Position
hg19 chr13:113,772,898-113,772,898
hg38 chr13:113,118,584-113,118,584 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000131.4:c.977G>A NP_000122.1:p.Arg326Gln
NM_019616.3:c.911G>A NP_062562.1:p.Arg304Gln
NM_001267554.1:c.725G>A NP_001254483.1:p.Arg242Gln
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

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

Prediction

ClinVar

Clinical Significance Uncertain significance
Review star
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 tgv49949689 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Uncertain significance no assertion criteria provided Congenital factor VII deficiency unknown Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.014 Blood Coagulation Disorders Activated FVII levels in factor VII Padua (Arg304Gln) coagulation disorder and i... BeFree 21902896 Detail
0.580 factor VII deficiency Activated FVII levels in factor VII Padua (Arg304Gln) coagulation disorder and i... BeFree 21902896 Detail
<0.001 von Willebrand Disease A G-to-A transition, which gives rise to a missense mutation, Arg-304 to Gln, an... BeFree 1634227 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_019616.4(F7):c.911G>A (p.Arg304Gln) AND Congenital factor VII deficiency ClinVar Detail
Activated FVII levels in factor VII Padua (Arg304Gln) coagulation disorder and in true factor VII de... DisGeNET Detail
Activated FVII levels in factor VII Padua (Arg304Gln) coagulation disorder and in true factor VII de... DisGeNET Detail
A G-to-A transition, which gives rise to a missense mutation, Arg-304 to Gln, and is associated with... 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
rs146698837 dbSNP
Genome
hg19
Position
chr13:113,772,898-113,772,898
Variant Type
snv
Reference Allele
G
Alternative Allele
A
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs146698837
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0001
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
1
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Heterozygous Counts (ExAC)
5
East Asian Chromosome Counts (ExAC)
8540
East Asian Allele Counts (ExAC)
5
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
5.85480093676815E-4
Chromosome Counts in All Race (ExAC)
119052
Allele Counts in All Race (ExAC)
7
Heterozygous Counts in All Race (ExAC)
7
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
5.879783623962638E-5
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