chr6:31642909:A>G Detail (hg38) (BAG6)

Information

Genome

Assembly Position
hg19 chr6:31,610,686-31,610,686 View the variant detail on this assembly version.
hg38 chr6:31,642,909-31,642,909

HGVS

Type Transcript Protein
RefSeq NM_080702.2:c.1855T>C NP_542433.1:p.Ser619Pro
NM_001199698.1:c.1855T>C NP_001186627.1:p.Ser619Pro
NM_004639.3:c.1777T>C NP_004630.3:p.Ser593Pro
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.579
ToMMo:0.570
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.605

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 142590 OMIM
HGNC 13919 HGNC
Ensembl ENSG00000204463 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv24787740 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
0.133 Malignant neoplasm of lung BAT3 rs1052486 and rs3117582 polymorphisms are associated with lung cancer risk:... BeFree 24989925 Detail
<0.001 Carcinoma of lung BAT3 rs1052486 and rs3117582 polymorphisms are associated with lung cancer risk:... BeFree 24989925 Detail
Annotation

Annotations

DescrptionSourceLinks
BAT3 rs1052486 and rs3117582 polymorphisms are associated with lung cancer risk: a meta-analysis. DisGeNET Detail
BAT3 rs1052486 and rs3117582 polymorphisms are associated with lung cancer risk: a meta-analysis. 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
chr6:31,642,909-31,642,909
Variant Type
snv
Reference Allele
A
Alternative Allele
G
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1139
Mean of sample read depth (HGVD)
40.40
Standard deviation of sample read depth (HGVD)
18.83
Number of reference allele (HGVD)
958
Number of alternative allele (HGVD)
1319
Allele Frequency (HGVD)
0.5792709705753184
Gene Symbol (HGVD)
BAG6
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))
rs1052486
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.5702
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
9556
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
7988
East Asian Allele Counts (ExAC)
4835
East Asian Heterozygous Counts (ExAC)
1995
East Asian Homozygous Counts (ExAC)
1420
East Asian Allele Frequency (ExAC)
0.6052829243865798
Chromosome Counts in All Race (ExAC)
106872
Allele Counts in All Race (ExAC)
56888
Heterozygous Counts in All Race (ExAC)
27364
Homozygous Counts in All Race (ExAC)
14762
Allele Frequency in All Race (ExAC)
0.5323003218803802
Genome browser