chr20:57485795:G>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	chr20:57,485,795-57,485,795
hg38	chr20:58,910,740-58,910,740 View the variant detail on this assembly version.

HGVS

GNAS

Type	Transcript	Protein
RefSeq	NM_000516.5:c.1096G>A	NP_000507.1:p.Ala366Thr
	NM_001077489.3:c.1051G>A	NP_001070957.1:p.Ala351Thr
	NM_016592.3:c.*1002G>A
	NM_080426.3:c.1054G>A	NP_536351.1:p.Ala352Thr
	NM_001077488.3:c.1099G>A	NP_001070956.1:p.Ala367Thr
	NM_001309840.1:c.*999G>A
	NM_001309861.1:c.*999G>A
	NM_001077490.2:c.3025G>A	NP_001070958.1:p.Ala1009Thr
	NM_080425.3:c.3025G>A	NP_536350.2:p.Ala1009Thr
Ensemble	ENST00000371085.8:c.1096G>A	ENST00000371085.8:p.Ala366Thr
	ENST00000481039.6:c.877G>A	ENST00000481039.6:p.Ala293Thr
	ENST00000477931.5:c.919G>A	ENST00000477931.5:p.Ala307Thr
	ENST00000604005.6:c.919G>A	ENST00000604005.6:p.Ala307Thr
	ENST00000472183.6:c.919G>A	ENST00000472183.6:p.Ala307Thr
	ENST00000476935.6:c.874G>A	ENST00000476935.6:p.Ala292Thr
	ENST00000470512.6:c.922G>A	ENST00000470512.6:p.Ala308Thr
	ENST00000469431.6:c.919G>A	ENST00000469431.6:p.Ala307Thr
	ENST00000488652.6:c.919G>A	ENST00000488652.6:p.Ala307Thr
	ENST00000492907.6:c.877G>A	ENST00000492907.6:p.Ala293Thr
	ENST00000480232.6:c.922G>A	ENST00000480232.6:p.Ala308Thr
	ENST00000265620.11:c.1051G>A	ENST00000265620.11:p.Ala351Thr
	ENST00000371075.7:c.*1002G>A
	ENST00000482112.6:c.874G>A	ENST00000482112.6:p.Ala292Thr
	ENST00000371095.7:c.1054G>A	ENST00000371095.7:p.Ala352Thr
	ENST00000354359.12:c.1099G>A	ENST00000354359.12:p.Ala367Thr
	ENST00000603546.2:c.919G>A	ENST00000603546.2:p.Ala307Thr
	ENST00000480975.5:c.874G>A	ENST00000480975.5:p.Ala292Thr
	ENST00000313949.11:c.*999G>A
	ENST00000467321.6:c.919G>A	ENST00000467321.6:p.Ala307Thr
	ENST00000468895.6:c.1094G>A	ENST00000468895.6:p.Arg365His
	ENST00000306090.12:c.1000G>A	ENST00000306090.12:p.Ala334Thr
	ENST00000467227.6:c.877G>A	ENST00000467227.6:p.Ala293Thr
	ENST00000488546.6:c.877G>A	ENST00000488546.6:p.Ala293Thr
	ENST00000371102.8:c.2983G>A	ENST00000371102.8:p.Ala995Thr
	ENST00000371100.9:c.3025G>A	ENST00000371100.9:p.Ala1009Thr
	ENST00000464788.6:c.919G>A	ENST00000464788.6:p.Ala307Thr
	ENST00000453292.7:c.*957G>A
	ENST00000419558.7:c.*954G>A
	ENST00000349036.9:c.2980G>A	ENST00000349036.9:p.Ala994Thr
	ENST00000683015.1:c.*1008G>A
	ENST00000682803.1:c.769G>A	ENST00000682803.1:p.Ala257Thr
	ENST00000676826.2:c.3028G>A	ENST00000676826.2:p.Ala1010Thr
	ENST00000667293.2:c.919G>A	ENST00000667293.2:p.Ala307Thr
	ENST00000663479.2:c.922G>A	ENST00000663479.2:p.Ala308Thr
	ENST00000657090.1:c.919G>A	ENST00000657090.1:p.Ala307Thr
	ENST00000656419.1:c.625G>A	ENST00000656419.1:p.Ala209Thr
	ENST00000485673.6:c.877G>A	ENST00000485673.6:p.Ala293Thr
	ENST00000478585.6:c.877G>A	ENST00000478585.6:p.Ala293Thr
	ENST00000462499.6:c.877G>A	ENST00000462499.6:p.Ala293Thr

Summary

MGeND

Clinical significance	Pathogenic
Variant entry	1
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Conflicting classifications of pathogenicity
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	COSM1028510	COSMIC
	MONDO

Disease area statistics

MGeND

Clinical significance	Last evaluated	Condition	Origin	Submission ID	Submitter	Institute	Citation	Comment	Image
Pathogenic		other	germline	MGS000001 (TMGS000137)	Kenjiro Kosaki	Keio University

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Conflicting interpretations of pathogenicity	2023-12-13	criteria provided, conflicting interpretations	not provided	germline	Detail
Likely pathogenic	2022-11-18	criteria provided, single submitter	Pseudohypoparathyroidism type I A	germline	Detail

CIViC

[No Data.]

DisGeNET

[No Data.]

Annotation

Annotations

Descrption	Source	Links
NM_000516.7(GNAS):c.1096G>A (p.Ala366Thr) AND not provided	ClinVar	Detail
NM_000516.7(GNAS):c.1096G>A (p.Ala366Thr) AND Pseudohypoparathyroidism type I A	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: rs137854537 dbSNP
Genome: hg19
Position: chr20:57,485,795-57,485,795
Variant Type: snv
Reference Allele: G
Alternative Allele: A

Genome browser

chr20:57485795:G>A Detail (hg19) (GNAS)

Genome

HGVS

MGeND

Frequency

Prediction

ClinVar

Image provided by the submitter

Annotations

Overlapped Transcript Coordinates

Overlapped Transcript