chr20:57484596:A>G Detail (hg19) (GNAS)

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

Genome

Assembly	Position
hg19	chr20:57,484,596-57,484,596
hg38	chr20:58,909,541-58,909,541 View the variant detail on this assembly version.

HGVS

GNAS

Type	Transcript	Protein
RefSeq	NM_000516.5:c.680A>G	NP_000507.1:p.Gln227Arg
	NM_001077490.2:c.2609A>G	NP_001070958.1:p.Gln870Arg
	NM_080425.3:c.2609A>G	NP_536350.2:p.Gln870Arg
	NM_016592.3:c.*586A>G
	NM_080426.3:c.638A>G	NP_536351.1:p.Gln213Arg
	NM_001077489.3:c.635A>G	NP_001070957.1:p.Gln212Arg
	NM_001309840.1:c.*583A>G
	NM_001309861.1:c.*583A>G
	NM_001077488.3:c.683A>G	NP_001070956.1:p.Gln228Arg
Ensemble	ENST00000468895.6:c.680A>G	ENST00000468895.6:p.Gln227Arg
	ENST00000467321.6:c.503A>G	ENST00000467321.6:p.Gln168Arg
	ENST00000482112.6:c.458A>G	ENST00000482112.6:p.Gln153Arg
	ENST00000480232.6:c.506A>G	ENST00000480232.6:p.Gln169Arg
	ENST00000480975.5:c.458A>G	ENST00000480975.5:p.Gln153Arg
	ENST00000467227.6:c.461A>G	ENST00000467227.6:p.Gln154Arg
	ENST00000485673.6:c.461A>G	ENST00000485673.6:p.Gln154Arg
	ENST00000464788.6:c.503A>G	ENST00000464788.6:p.Gln168Arg
	ENST00000488546.6:c.461A>G	ENST00000488546.6:p.Gln154Arg
	ENST00000604005.6:c.503A>G	ENST00000604005.6:p.Gln168Arg
	ENST00000478585.6:c.461A>G	ENST00000478585.6:p.Gln154Arg
	ENST00000371085.8:c.680A>G	ENST00000371085.8:p.Gln227Arg
	ENST00000477931.5:c.503A>G	ENST00000477931.5:p.Gln168Arg
	ENST00000472183.6:c.503A>G	ENST00000472183.6:p.Gln168Arg
	ENST00000469431.6:c.503A>G	ENST00000469431.6:p.Gln168Arg
	ENST00000371100.9:c.2609A>G	ENST00000371100.9:p.Gln870Arg
	ENST00000371102.8:c.2567A>G	ENST00000371102.8:p.Gln856Arg
	ENST00000481039.6:c.461A>G	ENST00000481039.6:p.Gln154Arg
	ENST00000419558.7:c.*538A>G
	ENST00000488652.6:c.503A>G	ENST00000488652.6:p.Gln168Arg
	ENST00000492907.6:c.461A>G	ENST00000492907.6:p.Gln154Arg
	ENST00000470512.6:c.506A>G	ENST00000470512.6:p.Gln169Arg
	ENST00000371075.7:c.*586A>G
	ENST00000476935.6:c.458A>G	ENST00000476935.6:p.Gln153Arg
	ENST00000371095.7:c.638A>G	ENST00000371095.7:p.Gln213Arg
	ENST00000603546.2:c.503A>G	ENST00000603546.2:p.Gln168Arg
	ENST00000683015.1:c.*592A>G
	ENST00000265620.11:c.635A>G	ENST00000265620.11:p.Gln212Arg
	ENST00000306090.12:c.584A>G	ENST00000306090.12:p.Gln195Arg
	ENST00000313949.11:c.*583A>G
	ENST00000349036.9:c.2564A>G	ENST00000349036.9:p.Gln855Arg
	ENST00000354359.12:c.683A>G	ENST00000354359.12:p.Gln228Arg
	ENST00000453292.7:c.*541A>G
	ENST00000462499.6:c.461A>G	ENST00000462499.6:p.Gln154Arg
	ENST00000656419.1:c.209A>G	ENST00000656419.1:p.Gln70Arg
	ENST00000657090.1:c.503A>G	ENST00000657090.1:p.Gln168Arg
	ENST00000663479.2:c.506A>G	ENST00000663479.2:p.Gln169Arg
	ENST00000667293.2:c.503A>G	ENST00000667293.2:p.Gln168Arg
	ENST00000676826.2:c.2612A>G	ENST00000676826.2:p.Gln871Arg
	ENST00000682803.1:c.353A>G	ENST00000682803.1:p.Gln118Arg

Summary

MGeND

Clinical significance	not provided
Variant entry	1
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic
Review star
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
	COSMIC	COSM1566191	COSMIC
	MONDO

Disease area statistics

MGeND

Clinical significance	Last evaluated	Condition	Origin	Submission ID	Submitter	Institute	Citation	Comment	Image
not provided		Myelodysplastic syndromes	somatic	MGS000005 (TMGS000006)	Keizo Horibe	National Hospital Organization Nagoya Medical Center

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	1995-02-01	no assertion criteria provided	Pituitary adenoma 3, multiple types	somatic	Detail
not provided		no assertion provided	McCune-Albright syndrome	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Links
0.371	McCune-Albright syndrome	NA	CLINVAR	Detail
0.243	Growth Hormone-Secreting Pituitary Adenoma	NA	CLINVAR	Detail
0.120	pituitary-dependent Cushing's disease	NA	CLINVAR	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000516.7(GNAS):c.680A>G (p.Gln227Arg) AND Pituitary adenoma 3, multiple types	ClinVar	Detail
NM_000516.7(GNAS):c.680A>G (p.Gln227Arg) AND McCune-Albright syndrome	ClinVar	Detail
NA	DisGeNET	Detail
NA	DisGeNET	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: rs121913494 dbSNP
Genome: hg19
Position: chr20:57,484,596-57,484,596
Variant Type: snv
Reference Allele: A
Alternative Allele: G

Genome browser

chr20:57484596:A>G Detail (hg19) (GNAS)

Genome

HGVS

MGeND

Frequency

Prediction

ClinVar

Image provided by the submitter

Annotations

Overlapped Transcript Coordinates

Overlapped Transcript