chr20:57480494:C>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	chr20:57,480,494-57,480,494
hg38	chr20:58,905,439-58,905,439 View the variant detail on this assembly version.

HGVS

GNAS

Type	Transcript	Protein
RefSeq	NM_001077489.3:c.444C>G	NP_001070957.1:p.Tyr148Ter
	NM_001309840.1:c.*392C>G
	NM_001309861.1:c.*392C>G
	NM_001077488.3:c.492C>G	NP_001070956.1:p.Tyr164Ter
	NM_016592.3:c.*395C>G
	NM_000516.5:c.489C>G	NP_000507.1:p.Tyr163Ter
	NM_080426.3:c.447C>G	NP_536351.1:p.Tyr149Ter
	NM_001077490.2:c.2418C>G	NP_001070958.1:p.Tyr806Ter
	NM_080425.3:c.2418C>G	NP_536350.2:p.Tyr806Ter
Ensemble	ENST00000265620.11:c.444C>G	ENST00000265620.11:p.Tyr148Ter
	ENST00000306090.12:c.393C>G	ENST00000306090.12:p.Tyr131Ter
	ENST00000313949.11:c.*392C>G
	ENST00000349036.9:c.2373C>G	ENST00000349036.9:p.Tyr791Ter
	ENST00000354359.12:c.492C>G	ENST00000354359.12:p.Tyr164Ter
	ENST00000371075.7:c.*395C>G
	ENST00000371085.8:c.489C>G	ENST00000371085.8:p.Tyr163Ter
	ENST00000371095.7:c.447C>G	ENST00000371095.7:p.Tyr149Ter
	ENST00000371100.9:c.2418C>G	ENST00000371100.9:p.Tyr806Ter
	ENST00000371102.8:c.2376C>G	ENST00000371102.8:p.Tyr792Ter
	ENST00000419558.7:c.*347C>G
	ENST00000453292.7:c.*350C>G
	ENST00000462499.6:c.270C>G	ENST00000462499.6:p.Tyr90Ter
	ENST00000464788.6:c.312C>G	ENST00000464788.6:p.Tyr104Ter
	ENST00000467227.6:c.270C>G	ENST00000467227.6:p.Tyr90Ter
	ENST00000467321.6:c.312C>G	ENST00000467321.6:p.Tyr104Ter
	ENST00000468895.6:c.489C>G	ENST00000468895.6:p.Tyr163Ter
	ENST00000469431.6:c.312C>G	ENST00000469431.6:p.Tyr104Ter
	ENST00000470512.6:c.315C>G	ENST00000470512.6:p.Tyr105Ter
	ENST00000472183.6:c.312C>G	ENST00000472183.6:p.Tyr104Ter
	ENST00000476935.6:c.267C>G	ENST00000476935.6:p.Tyr89Ter
	ENST00000477931.5:c.312C>G	ENST00000477931.5:p.Tyr104Ter
	ENST00000478585.6:c.270C>G	ENST00000478585.6:p.Tyr90Ter
	ENST00000480232.6:c.315C>G	ENST00000480232.6:p.Tyr105Ter
	ENST00000480975.5:c.267C>G	ENST00000480975.5:p.Tyr89Ter
	ENST00000481039.6:c.270C>G	ENST00000481039.6:p.Tyr90Ter
	ENST00000482112.6:c.267C>G	ENST00000482112.6:p.Tyr89Ter
	ENST00000485673.6:c.270C>G	ENST00000485673.6:p.Tyr90Ter
	ENST00000488546.6:c.270C>G	ENST00000488546.6:p.Tyr90Ter
	ENST00000488652.6:c.312C>G	ENST00000488652.6:p.Tyr104Ter
	ENST00000492907.6:c.270C>G	ENST00000492907.6:p.Tyr90Ter
	ENST00000603546.2:c.312C>G	ENST00000603546.2:p.Tyr104Ter
	ENST00000604005.6:c.312C>G	ENST00000604005.6:p.Tyr104Ter
	ENST00000657090.1:c.312C>G	ENST00000657090.1:p.Tyr104Ter
	ENST00000663479.2:c.315C>G	ENST00000663479.2:p.Tyr105Ter
	ENST00000667293.2:c.312C>G	ENST00000667293.2:p.Tyr104Ter
	ENST00000676826.2:c.2421C>G	ENST00000676826.2:p.Tyr807Ter
	ENST00000682803.1:c.162C>G	ENST00000682803.1:p.Tyr54Ter
	ENST00000683015.1:c.*401C>G

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	COSM78955	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2020-06-01	criteria provided, single submitter	Pseudohypoparathyroidism type I A	germline	Detail
Pathogenic	2023-10-26	criteria provided, single submitter	not provided	germline	Detail

CIViC

[No Data.]

DisGeNET

[No Data.]

Annotation

Annotations

Descrption	Source	Links
NM_000516.7(GNAS):c.489C>G (p.Tyr163Ter) AND Pseudohypoparathyroidism type I A	ClinVar	Detail
NM_000516.7(GNAS):c.489C>G (p.Tyr163Ter) AND not provided	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: rs372290095 dbSNP
Genome: hg19
Position: chr20:57,480,494-57,480,494
Variant Type: snv
Reference Allele: C
Alternative Allele: G

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