chr20:57469073:T>C Detail (hg19) (GNAS)

Information

Genome

Assembly Position
hg19 chr20:57,469,073-57,469,073
hg38 chr20:58,894,018-58,894,018 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001077489.3:c.140-1594T>C
NM_001309840.1:c.*43-1594T>C
NM_001309861.1:c.*43-1594T>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

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

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 139320 OMIM
HGNC 4392 HGNC
Ensembl ENSG00000087460 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv64196659 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
0.248 Heart failure The present study sought to investigate whether ADRB1 Arg389Gly (rs1801253), GNA... BeFree 23065660 Detail
0.013 congestive heart failure The present study sought to investigate whether ADRB1 Arg389Gly (rs1801253), GNA... BeFree 23065660 Detail
Annotation

Annotations

DescrptionSourceLinks
The present study sought to investigate whether ADRB1 Arg389Gly (rs1801253), GNAS -1211 G/A (rs61238... DisGeNET Detail
The present study sought to investigate whether ADRB1 Arg389Gly (rs1801253), GNAS -1211 G/A (rs61238... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs6026584 dbSNP
Genome
hg19
Position
chr20:57,469,073-57,469,073
Variant Type
snv
Reference Allele
T
Alternative Allele
C
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))
rs6026584
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.6795
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
11389
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
Genome browser