chr6:31816086:G>C Detail (hg38) (HSPA1A)

Information

Genome

Assembly Position
hg19 chr6:31,783,863-31,783,863 View the variant detail on this assembly version.
hg38 chr6:31,816,086-31,816,086

HGVS

Type Transcript Protein
RefSeq NM_005345.5:c.330G>C NP_005336.3:p.Glu110Asp
Ensemble ENST00000375651.7:c.330G>C ENST00000375651.7:p.Glu110Asp
ENST00000608703.1:c.76-241G>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.074
ToMMo:0.054
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.250

Prediction

ClinVar

Clinical Significance association
Review star
Show details
Links
Type Database ID Link
Gene MIM 140550 OMIM
HGNC 5232 HGNC
Ensembl ENSG00000204389 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv24797964 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
association 2019-08-04 no assertion criteria provided chronic obstructive pulmonary disease germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.006 bipolar disorder We have further studied a previously investigated sample of 187 major depressive... BeFree 19582769 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_005345.6(HSPA1A):c.330G>C (p.Glu110Asp) AND Chronic obstructive pulmonary disease ClinVar Detail
We have further studied a previously investigated sample of 187 major depressive disorder (MDD) pati... 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
rs562047 dbSNP
Genome
hg38
Position
chr6:31,816,086-31,816,086
Variant Type
snv
Reference Allele
G
Alternative Allele
C
Filtering Status (HGVD)
VQSRTrancheSNP99.00to99.90
# of samples (HGVD)
102
Mean of sample read depth (HGVD)
24.83
Standard deviation of sample read depth (HGVD)
50.75
Number of reference allele (HGVD)
189
Number of alternative allele (HGVD)
15
Allele Frequency (HGVD)
0.07352941176470588
Gene Symbol (HGVD)
HSPA1A
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))
rs562047
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0536
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
879
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16412
East Asian Chromosome Counts (ExAC)
32
East Asian Allele Counts (ExAC)
8
East Asian Heterozygous Counts (ExAC)
2
East Asian Homozygous Counts (ExAC)
3
East Asian Allele Frequency (ExAC)
0.25
Chromosome Counts in All Race (ExAC)
350
Allele Counts in All Race (ExAC)
90
Heterozygous Counts in All Race (ExAC)
64
Homozygous Counts in All Race (ExAC)
13
Allele Frequency in All Race (ExAC)
0.2571428571428571
Genome browser