chr20:58853658:T>C Detail (hg38) (GNAS)

Go to:

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

Information

Genome

Assembly	Position
hg19	chr20:57,428,713-57,428,713 View the variant detail on this assembly version.
hg38	chr20:58,853,658-58,853,658

HGVS

GNAS

Type	Transcript	Protein
RefSeq	NM_001309883.1:c.398T>C	NP_001296812.1:p.Leu133Ser
	NM_001309840.1:c.*42+12772T>C
	NM_001309861.1:c.*42+12772T>C
	NM_016592.3:c.*42+12772T>C
	NM_001077490.2:c.393T>C	NP_001070958.1:p.Leu131=
	NM_080425.3:c.393T>C	NP_536350.2:p.Leu131=
Ensemble	ENST00000306090.12:c.43+12772T>C
	ENST00000306120.4:c.398T>C	ENST00000306120.4:p.Leu133Ser
	ENST00000313949.11:c.*42+12772T>C
	ENST00000349036.9:c.393T>C	ENST00000349036.9:p.Leu131=
	ENST00000371075.7:c.*42+12772T>C
	ENST00000371098.6:c.*42+12772T>C
	ENST00000371100.9:c.393T>C	ENST00000371100.9:p.Leu131=
	ENST00000371102.8:c.393T>C	ENST00000371102.8:p.Leu131=
	ENST00000419558.7:c.*42+12772T>C
	ENST00000423897.7:c.393T>C	ENST00000423897.7:p.Leu131=
	ENST00000453292.7:c.*42+12772T>C
	ENST00000462499.6:c.-39+11783T>C
	ENST00000467227.6:c.-39+9584T>C
	ENST00000472183.6:c.-39+11783T>C
	ENST00000482112.6:c.-39+11783T>C
	ENST00000491348.5:c.-39+11783T>C
	ENST00000493744.5:c.-39+11783T>C
	ENST00000657090.1:c.-39+13718T>C
	ENST00000663479.2:c.-39+11783T>C
	ENST00000676826.2:c.393T>C	ENST00000676826.2:p.Leu131=

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star	[No Data.]
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
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

[No Data.]

CIViC

Disease	Drug	EL	ET	ED	CS	VO	TR	Pubmed	Links
lung non-small cell carcinoma	Erlotinib,Gefitinib	B	Predictive	Supports	Resistance	Common Germline	2	24758907	Detail
intrahepatic cholangiocarcinoma		B	Prognostic	Supports	Poor Outcome	Common Germline	3	17356712	Detail
breast carcinoma		B	Prognostic	Supports	Poor Outcome	Common Germline	4	17186357	Detail
bladder urothelial carcinoma		B	Prognostic	Supports	Better Outcome	Common Germline	4	15824158	Detail
colorectal cancer		B	Prognostic	Supports	Better Outcome	Common Germline	4	16033819	Detail
esophageal cancer	Cisplatin,Fluorouracil	B	Predictive	Supports	Resistance	Common Germline	4	19274060	Detail
clear cell renal cell carcinoma		B	Prognostic	Supports	Better Outcome	Common Germline	4	16467086	Detail
chronic lymphocytic leukemia		B	Prognostic	Supports	Better Outcome	Common Germline	4	17020971	Detail
melanoma		B	Prognostic	Supports	Better Outcome	Common Germline	4	21156401	Detail

DisGeNET

[No Data.]

Annotation

Annotations

Descrption	Source	Links
The disease control rate of patients with GNAS1 T393C CC genotype was lower than that of patients wi...	CIViC Evidence	Detail
Intrahepatic cholangiocarcinomas of patients with homozygous TT genotypes revealed a higher prolifer...	CIViC Evidence	Detail
This study showed that the carriers of the T allele had a significantly less favourable course of th...	CIViC Evidence	Detail
This study demostrated that the progression-free survival, metastasis-free survival, and cancer-spec...	CIViC Evidence	Detail
In a retrospective study of 151 patients with sporadic colorectal cancer, 5-year survival rate was s...	CIViC Evidence	Detail
Overall, 63% of the patients in the T-allele group (TT + CT), i.e with the T393C genotype, were mino...	CIViC Evidence	Detail
In this study, Kaplan-Meier curves for tumor progression, development of metastasis, and tumor-relat...	CIViC Evidence	Detail
In a retrospective study of 144 patients with B-cell chronic lymphocytic leukemia, the median progre...	CIViC Evidence	Detail
This study showed that GNAS1 T393C SNP represents a genetic host factor for predicting tumor progres...	CIViC Evidence	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: -
Genome: hg38
Position: chr20:58,853,658-58,853,658
Variant Type: snv
Reference Allele: T
Alternative Allele: C
Variant (CIViC) (CIViC Variant): T393C
Transcript 1 (CIViC Variant): ENST00000371100
Variant URL (CIViC Variant): https://civic.genome.wustl.edu/links/variants/877

Genome browser