chr9:80409488:T>G Detail (hg19) (GNAQ)

Information

Genome

Assembly Position
hg19 chr9:80,409,488-80,409,488
hg38 chr9:77,794,572-77,794,572 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_002072.4:c.626A>C NP_002063.2:p.Gln209Pro
Ensemble ENST00000286548.9:c.626A>C ENST00000286548.9:p.Gln209Pro
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic Likely pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 600998 OMIM
HGNC 4390 HGNC
Ensembl ENSG00000156052 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC COSM28758 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2014-10-02 no assertion criteria provided melanoma somatic Detail
Likely pathogenic 2015-07-14 no assertion criteria provided uveal melanoma somatic Detail
CIViC
Disease Drug EL ET ED CS VO TR Pubmed Links
skin melanoma Vemurafenib C Predictive Supports Resistance Somatic 2 24504448 Detail
skin melanoma PLX4720 D Predictive Supports Resistance Somatic 3 24504448 Detail
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
A 26-year old patient presented with vemurafenib resistant BRAF-mutated (V600E) cutaneous melanoma. ... CIViC Evidence Detail
Cells were derived from a 26-year old patient with vemurafenib resistant BRAF-mutated (V600E) cutane... CIViC Evidence Detail
NM_002072.5(GNAQ):c.626A>C (p.Gln209Pro) AND Melanoma ClinVar Detail
NM_002072.5(GNAQ):c.626A>C (p.Gln209Pro) AND Uveal melanoma 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
rs121913492 dbSNP
Genome
hg19
Position
chr9:80,409,488-80,409,488
Variant Type
snv
Reference Allele
T
Alternative Allele
G
Variant (CIViC) (CIViC Variant)
Q209P
Transcript 1 (CIViC Variant)
ENST00000286548.4
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/604
Genome browser