chr20:57484597:G>C Detail (hg19) (GNAS)

Go to:

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

Information

Genome

Assembly	Position
hg19	chr20:57,484,597-57,484,597
hg38	chr20:58,909,542-58,909,542 View the variant detail on this assembly version.

HGVS

GNAS

Type	Transcript	Protein
RefSeq	NM_001077489.3:c.636G>C	NP_001070957.1:p.Gln212His
	NM_001309840.1:c.*584G>C
	NM_001309861.1:c.*584G>C
	NM_001077488.3:c.684G>C	NP_001070956.1:p.Gln228His
	NM_016592.3:c.*587G>C
	NM_000516.5:c.681G>C	NP_000507.1:p.Gln227His
	NM_080426.3:c.639G>C	NP_536351.1:p.Gln213His
	NM_001077490.2:c.2610G>C	NP_001070958.1:p.Gln870His
	NM_080425.3:c.2610G>C	NP_536350.2:p.Gln870His
Ensemble	ENST00000265620.11:c.636G>C	ENST00000265620.11:p.Gln212His
	ENST00000306090.12:c.585G>C	ENST00000306090.12:p.Gln195His
	ENST00000313949.11:c.*584G>C
	ENST00000663479.2:c.507G>C	ENST00000663479.2:p.Gln169His
	ENST00000667293.2:c.504G>C	ENST00000667293.2:p.Gln168His
	ENST00000676826.2:c.2613G>C	ENST00000676826.2:p.Gln871His
	ENST00000682803.1:c.354G>C	ENST00000682803.1:p.Gln118His
	ENST00000683015.1:c.*593G>C
	ENST00000349036.9:c.2565G>C	ENST00000349036.9:p.Gln855His
	ENST00000354359.12:c.684G>C	ENST00000354359.12:p.Gln228His
	ENST00000371075.7:c.*587G>C
	ENST00000371085.8:c.681G>C	ENST00000371085.8:p.Gln227His
	ENST00000371095.7:c.639G>C	ENST00000371095.7:p.Gln213His
	ENST00000371100.9:c.2610G>C	ENST00000371100.9:p.Gln870His
	ENST00000371102.8:c.2568G>C	ENST00000371102.8:p.Gln856His
	ENST00000419558.7:c.*539G>C
	ENST00000453292.7:c.*542G>C
	ENST00000462499.6:c.462G>C	ENST00000462499.6:p.Gln154His
	ENST00000464788.6:c.504G>C	ENST00000464788.6:p.Gln168His
	ENST00000467227.6:c.462G>C	ENST00000467227.6:p.Gln154His
	ENST00000467321.6:c.504G>C	ENST00000467321.6:p.Gln168His
	ENST00000468895.6:c.681G>C	ENST00000468895.6:p.Gln227His
	ENST00000469431.6:c.504G>C	ENST00000469431.6:p.Gln168His
	ENST00000470512.6:c.507G>C	ENST00000470512.6:p.Gln169His
	ENST00000472183.6:c.504G>C	ENST00000472183.6:p.Gln168His
	ENST00000476935.6:c.459G>C	ENST00000476935.6:p.Gln153His
	ENST00000477931.5:c.504G>C	ENST00000477931.5:p.Gln168His
	ENST00000478585.6:c.462G>C	ENST00000478585.6:p.Gln154His
	ENST00000480232.6:c.507G>C	ENST00000480232.6:p.Gln169His
	ENST00000480975.5:c.459G>C	ENST00000480975.5:p.Gln153His
	ENST00000481039.6:c.462G>C	ENST00000481039.6:p.Gln154His
	ENST00000482112.6:c.459G>C	ENST00000482112.6:p.Gln153His
	ENST00000485673.6:c.462G>C	ENST00000485673.6:p.Gln154His
	ENST00000488546.6:c.462G>C	ENST00000488546.6:p.Gln154His
	ENST00000488652.6:c.504G>C	ENST00000488652.6:p.Gln168His
	ENST00000492907.6:c.462G>C	ENST00000492907.6:p.Gln154His
	ENST00000603546.2:c.504G>C	ENST00000603546.2:p.Gln168His
	ENST00000604005.6:c.504G>C	ENST00000604005.6:p.Gln168His
	ENST00000656419.1:c.210G>C	ENST00000656419.1:p.Gln70His
	ENST00000657090.1:c.504G>C	ENST00000657090.1:p.Gln168His

Summary

MGeND

Clinical significance
Variant entry
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	COSM4168959	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

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

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.371	McCune-Albright syndrome	NA	CLINVAR		Detail
0.120	pituitary-dependent Cushing's disease	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_000516.7(GNAS):c.681G>C (p.Gln227His) AND Pituitary adenoma 3, multiple types	ClinVar	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: rs137854533 dbSNP
Genome: hg19
Position: chr20:57,484,597-57,484,597
Variant Type: snv
Reference Allele: G
Alternative Allele: C

Genome browser