chr20:58909718:C>G Detail (hg38) (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	chr20:57,484,773-57,484,773 View the variant detail on this assembly version.
hg38	chr20:58,909,718-58,909,718

HGVS

GNAS

Type	Transcript	Protein
RefSeq	NM_001077489.3:c.708C>G	NP_001070957.1:p.Ser236Arg
	NM_001309840.1:c.*656C>G
	NM_001309861.1:c.*656C>G
	NM_001077488.3:c.756C>G	NP_001070956.1:p.Ser252Arg
	NM_016592.3:c.*659C>G
	NM_000516.5:c.753C>G	NP_000507.1:p.Ser251Arg
	NM_080426.3:c.711C>G	NP_536351.1:p.Ser237Arg
	NM_001077490.2:c.2682C>G	NP_001070958.1:p.Ser894Arg
	NM_080425.3:c.2682C>G	NP_536350.2:p.Ser894Arg
Ensemble	ENST00000265620.11:c.708C>G	ENST00000265620.11:p.Ser236Arg
	ENST00000306090.12:c.657C>G	ENST00000306090.12:p.Ser219Arg
	ENST00000313949.11:c.*656C>G
	ENST00000349036.9:c.2637C>G	ENST00000349036.9:p.Ser879Arg
	ENST00000354359.12:c.756C>G	ENST00000354359.12:p.Ser252Arg
	ENST00000371075.7:c.*659C>G
	ENST00000371085.8:c.753C>G	ENST00000371085.8:p.Ser251Arg
	ENST00000371095.7:c.711C>G	ENST00000371095.7:p.Ser237Arg
	ENST00000371100.9:c.2682C>G	ENST00000371100.9:p.Ser894Arg
	ENST00000371102.8:c.2640C>G	ENST00000371102.8:p.Ser880Arg
	ENST00000419558.7:c.*611C>G
	ENST00000453292.7:c.*614C>G
	ENST00000462499.6:c.534C>G	ENST00000462499.6:p.Ser178Arg
	ENST00000464788.6:c.576C>G	ENST00000464788.6:p.Ser192Arg
	ENST00000467227.6:c.534C>G	ENST00000467227.6:p.Ser178Arg
	ENST00000467321.6:c.576C>G	ENST00000467321.6:p.Ser192Arg
	ENST00000468895.6:c.753C>G	ENST00000468895.6:p.Ser251Arg
	ENST00000469431.6:c.576C>G	ENST00000469431.6:p.Ser192Arg
	ENST00000470512.6:c.579C>G	ENST00000470512.6:p.Ser193Arg
	ENST00000472183.6:c.576C>G	ENST00000472183.6:p.Ser192Arg
	ENST00000476935.6:c.531C>G	ENST00000476935.6:p.Ser177Arg
	ENST00000477931.5:c.576C>G	ENST00000477931.5:p.Ser192Arg
	ENST00000478585.6:c.534C>G	ENST00000478585.6:p.Ser178Arg
	ENST00000480232.6:c.579C>G	ENST00000480232.6:p.Ser193Arg
	ENST00000480975.5:c.531C>G	ENST00000480975.5:p.Ser177Arg
	ENST00000481039.6:c.534C>G	ENST00000481039.6:p.Ser178Arg
	ENST00000482112.6:c.531C>G	ENST00000482112.6:p.Ser177Arg
	ENST00000485673.6:c.534C>G	ENST00000485673.6:p.Ser178Arg
	ENST00000488546.6:c.534C>G	ENST00000488546.6:p.Ser178Arg
	ENST00000488652.6:c.576C>G	ENST00000488652.6:p.Ser192Arg
	ENST00000492907.6:c.534C>G	ENST00000492907.6:p.Ser178Arg
	ENST00000603546.2:c.576C>G	ENST00000603546.2:p.Ser192Arg
	ENST00000604005.6:c.576C>G	ENST00000604005.6:p.Ser192Arg
	ENST00000656419.1:c.282C>G	ENST00000656419.1:p.Ser94Arg
	ENST00000657090.1:c.576C>G	ENST00000657090.1:p.Ser192Arg
	ENST00000663479.2:c.579C>G	ENST00000663479.2:p.Ser193Arg
	ENST00000667293.2:c.576C>G	ENST00000667293.2:p.Ser192Arg
	ENST00000676826.2:c.2685C>G	ENST00000676826.2:p.Ser895Arg
	ENST00000682803.1:c.426C>G	ENST00000682803.1:p.Ser142Arg
	ENST00000683015.1:c.*665C>G

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Likely pathogenic
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
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Likely pathogenic	2019-02-08	criteria provided, single submitter	pseudopseudohypoparathyroidism	de novo	Detail

CIViC

[No Data.]

DisGeNET

[No Data.]

Annotation

Annotations

Descrption	Source	Links
NM_000516.7(GNAS):c.753C>G (p.Ser251Arg) AND Pseudopseudohypoparathyroidism	ClinVar	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: rs1272546759 dbSNP
Genome: hg38
Position: chr20:58,909,718-58,909,718
Variant Type: snv
Reference Allele: C
Alternative Allele: G

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