chr5:7867917:T>C Detail (hg38) (FASTKD3)

Information

Genome

Assembly Position
hg19 chr5:7,868,030-7,868,030 View the variant detail on this assembly version.
hg38 chr5:7,867,917-7,867,917

HGVS

Type Transcript Protein
RefSeq NM_024091.3:c.167A>G NP_076996.2:p.Lys56Arg
Ensemble ENST00000264669.10:c.167A>G ENST00000264669.10:p.Lys56Arg
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.680
ToMMo:0.679
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.704

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 617530 OMIM
HGNC 28758 HGNC
Ensembl ENSG00000124279 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv20177600 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
0.004 Non-small cell lung carcinoma Variant alleles were significantly associated with favorable survivals of NSCLC ... BeFree 20737570 Detail
0.003 Non-small cell lung carcinoma Variant alleles were significantly associated with favorable survivals of NSCLC ... BeFree 20737570 Detail
0.003 Non-small cell lung carcinoma Variant alleles were significantly associated with favorable survivals of NSCLC ... BeFree 20737570 Detail
0.003 Non-small cell lung carcinoma Variant alleles were significantly associated with favorable survivals of NSCLC ... BeFree 20737570 Detail
Annotation

Annotations

DescrptionSourceLinks
Variant alleles were significantly associated with favorable survivals of NSCLC for MTR rs3768160 A&... DisGeNET Detail
Variant alleles were significantly associated with favorable survivals of NSCLC for MTR rs3768160 A&... DisGeNET Detail
Variant alleles were significantly associated with favorable survivals of NSCLC for MTR rs3768160 A&... DisGeNET Detail
Variant alleles were significantly associated with favorable survivals of NSCLC for MTR rs3768160 A&... 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
hg38
Position
chr5:7,867,917-7,867,917
Variant Type
snv
Reference Allele
T
Alternative Allele
C
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1206
Mean of sample read depth (HGVD)
80.59
Standard deviation of sample read depth (HGVD)
36.64
Number of reference allele (HGVD)
770
Number of alternative allele (HGVD)
1638
Allele Frequency (HGVD)
0.6802325581395349
Gene Symbol (HGVD)
FASTKD3
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))
rs2966952
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.6788
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
11376
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8642
East Asian Allele Counts (ExAC)
6080
East Asian Heterozygous Counts (ExAC)
1813
East Asian Homozygous Counts (ExAC)
2133
East Asian Allele Frequency (ExAC)
0.7035408470261514
Chromosome Counts in All Race (ExAC)
121388
Allele Counts in All Race (ExAC)
99556
Heterozygous Counts in All Race (ExAC)
17515
Homozygous Counts in All Race (ExAC)
41020
Allele Frequency in All Race (ExAC)
0.820146966751244
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