chr20:57484595:C>A Detail (hg19) (GNAS)

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

Information

Genome

Assembly	Position
hg19	chr20:57,484,595-57,484,595
hg38	chr20:58,909,540-58,909,540 View the variant detail on this assembly version.

HGVS

GNAS

Type	Transcript	Protein
RefSeq	NM_001077489.3:c.634C>A	NP_001070957.1:p.Gln212Lys
	NM_001309840.1:c.*582C>A
	NM_001309861.1:c.*582C>A
	NM_001077488.3:c.682C>A	NP_001070956.1:p.Gln228Lys
	NM_016592.3:c.*585C>A
	NM_000516.5:c.679C>A	NP_000507.1:p.Gln227Lys
	NM_080426.3:c.637C>A	NP_536351.1:p.Gln213Lys
	NM_001077490.2:c.2608C>A	NP_001070958.1:p.Gln870Lys
	NM_080425.3:c.2608C>A	NP_536350.2:p.Gln870Lys
Ensemble	ENST00000265620.11:c.634C>A	ENST00000265620.11:p.Gln212Lys
	ENST00000306090.12:c.583C>A	ENST00000306090.12:p.Gln195Lys
	ENST00000313949.11:c.*582C>A
	ENST00000349036.9:c.2563C>A	ENST00000349036.9:p.Gln855Lys
	ENST00000354359.12:c.682C>A	ENST00000354359.12:p.Gln228Lys
	ENST00000371075.7:c.*585C>A
	ENST00000371085.8:c.679C>A	ENST00000371085.8:p.Gln227Lys
	ENST00000371095.7:c.637C>A	ENST00000371095.7:p.Gln213Lys
	ENST00000371100.9:c.2608C>A	ENST00000371100.9:p.Gln870Lys
	ENST00000371102.8:c.2566C>A	ENST00000371102.8:p.Gln856Lys
	ENST00000419558.7:c.*537C>A
	ENST00000453292.7:c.*540C>A
	ENST00000462499.6:c.460C>A	ENST00000462499.6:p.Gln154Lys
	ENST00000464788.6:c.502C>A	ENST00000464788.6:p.Gln168Lys
	ENST00000467227.6:c.460C>A	ENST00000467227.6:p.Gln154Lys
	ENST00000467321.6:c.502C>A	ENST00000467321.6:p.Gln168Lys
	ENST00000468895.6:c.679C>A	ENST00000468895.6:p.Gln227Lys
	ENST00000469431.6:c.502C>A	ENST00000469431.6:p.Gln168Lys
	ENST00000470512.6:c.505C>A	ENST00000470512.6:p.Gln169Lys
	ENST00000472183.6:c.502C>A	ENST00000472183.6:p.Gln168Lys
	ENST00000476935.6:c.457C>A	ENST00000476935.6:p.Gln153Lys
	ENST00000477931.5:c.502C>A	ENST00000477931.5:p.Gln168Lys
	ENST00000478585.6:c.460C>A	ENST00000478585.6:p.Gln154Lys
	ENST00000480232.6:c.505C>A	ENST00000480232.6:p.Gln169Lys
	ENST00000480975.5:c.457C>A	ENST00000480975.5:p.Gln153Lys
	ENST00000481039.6:c.460C>A	ENST00000481039.6:p.Gln154Lys
	ENST00000482112.6:c.457C>A	ENST00000482112.6:p.Gln153Lys
	ENST00000485673.6:c.460C>A	ENST00000485673.6:p.Gln154Lys
	ENST00000488546.6:c.460C>A	ENST00000488546.6:p.Gln154Lys
	ENST00000488652.6:c.502C>A	ENST00000488652.6:p.Gln168Lys
	ENST00000492907.6:c.460C>A	ENST00000492907.6:p.Gln154Lys
	ENST00000603546.2:c.502C>A	ENST00000603546.2:p.Gln168Lys
	ENST00000604005.6:c.502C>A	ENST00000604005.6:p.Gln168Lys
	ENST00000656419.1:c.208C>A	ENST00000656419.1:p.Gln70Lys
	ENST00000657090.1:c.502C>A	ENST00000657090.1:p.Gln168Lys
	ENST00000663479.2:c.505C>A	ENST00000663479.2:p.Gln169Lys
	ENST00000667293.2:c.502C>A	ENST00000667293.2:p.Gln168Lys
	ENST00000676826.2:c.2611C>A	ENST00000676826.2:p.Gln871Lys
	ENST00000682803.1:c.352C>A	ENST00000682803.1:p.Gln118Lys
	ENST00000683015.1:c.*591C>A

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	not provided
Review star
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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
	COSMIC	COSM6908877	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
not provided		no assertion provided	McCune-Albright syndrome	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.371	McCune-Albright syndrome	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_000516.7(GNAS):c.679C>A (p.Gln227Lys) AND McCune-Albright syndrome	ClinVar	Detail
NA	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: rs797045203 dbSNP
Genome: hg19
Position: chr20:57,484,595-57,484,595
Variant Type: snv
Reference Allele: C
Alternative Allele: A

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