chr12:53291324:G>A Detail (hg19) (KRT8)

Information

Genome

Assembly Position
hg19 chr12:53,291,324-53,291,324
hg38 chr12:52,897,540-52,897,540 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_002273.3:c.1340C>T NP_002264.1:p.Ala447Val
NR_045962.1:c.1340C>T
NM_001256293.1:c.1340C>T NP_001243222.1:p.Ala447Val
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:0.002

Prediction

ClinVar

Clinical Significance Likely benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 148060 OMIM
HGNC 6446 HGNC
Ensembl ENSG00000170421 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv45915025 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 Hepatitis C virus, susceptibility to unknown Detail
Likely benign 2021-09-23 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
NM_002273.4(KRT8):c.1340C>T (p.Ala447Val) AND Hepatitis C virus, susceptibility to ClinVar Detail
NM_002273.4(KRT8):c.1340C>T (p.Ala447Val) AND not provided ClinVar 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
rs386834223 dbSNP
Genome
hg19
Position
chr12:53,291,324-53,291,324
Variant Type
snv
Reference Allele
G
Alternative Allele
A
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
VQSRTrancheSNP99.60to99.80
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs386834223
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 Chromosome Counts (ExAC)
8322
East Asian Allele Counts (ExAC)
13
East Asian Heterozygous Counts (ExAC)
13
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0015621244893054553
Chromosome Counts in All Race (ExAC)
115918
Allele Counts in All Race (ExAC)
25
Heterozygous Counts in All Race (ExAC)
25
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
2.1566969754481616E-4
Genome browser