chr20:58894018:T>C Detail (hg38) (GNAS)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
Genome browser

Information

Genome

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

HGVS

GNAS

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
	NM_001077488.3:c.140-1594T>C
	NM_016592.3:c.*43-1594T>C
	NM_001309842.1:c.140-1594T>C
	NM_000516.5:c.140-1594T>C
	NM_080426.3:c.140-1594T>C
	NM_001077490.2:c.2069-1594T>C
	NM_080425.3:c.2069-1594T>C
	NR_132273.1:c.-38-1594T>C
Ensemble	ENST00000265620.11:c.140-1594T>C
	ENST00000306090.12:c.44-1594T>C
	ENST00000313949.11:c.*43-1594T>C
	ENST00000338783.7:c.140-1594T>C
	ENST00000349036.9:c.2069-1594T>C
	ENST00000354359.12:c.140-1594T>C
	ENST00000371075.7:c.*43-1594T>C
	ENST00000371081.5:c.140-1594T>C
	ENST00000371085.8:c.140-1594T>C
	ENST00000371095.7:c.140-1594T>C
	ENST00000371098.6:c.*43-1594T>C
	ENST00000371100.9:c.2069-1594T>C
	ENST00000371102.8:c.2069-1594T>C
	ENST00000419558.7:c.*43-1594T>C
	ENST00000423897.7:c.2069-1594T>C
	ENST00000453292.7:c.*43-1594T>C
	ENST00000461152.6:c.*52-1594T>C
	ENST00000462499.6:c.-38-1594T>C
	ENST00000464788.6:c.-38-1594T>C
	ENST00000464960.5:c.-38-1594T>C
	ENST00000467227.6:c.-38-1594T>C
	ENST00000467321.6:c.-38-1594T>C
	ENST00000468895.6:c.140-1594T>C
	ENST00000469431.6:c.-38-1594T>C
	ENST00000470512.6:c.-38-1594T>C
	ENST00000472183.6:c.-38-1594T>C
	ENST00000476935.6:c.-38-1594T>C
	ENST00000477931.5:c.-38-1594T>C
	ENST00000478585.6:c.-38-1594T>C
	ENST00000480232.6:c.-38-1594T>C
	ENST00000480975.5:c.-38-1594T>C
	ENST00000481039.6:c.-38-1594T>C
	ENST00000482112.6:c.-38-1594T>C
	ENST00000484504.5:c.-38-1594T>C
	ENST00000485673.6:c.-38-1594T>C
	ENST00000488546.6:c.-38-1594T>C
	ENST00000488652.6:c.-38-1594T>C
	ENST00000491348.5:c.-38-1594T>C
	ENST00000492907.6:c.-38-1594T>C
	ENST00000493744.5:c.-38-1594T>C
	ENST00000603546.2:c.-39+1512T>C
	ENST00000604005.6:c.-38-1594T>C
	ENST00000657090.1:c.-38-1594T>C
	ENST00000663479.2:c.-38-1594T>C
	ENST00000667293.2:c.-38-1594T>C
	ENST00000676826.2:c.2069-1594T>C
	ENST00000682803.1:c.-365-1594T>C
	ENST00000683015.1:c.*52-1594T>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

GNAS

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

Descrption	Source	Links
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: hg38
Position: chr20:58,894,018-58,894,018
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

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