rs113488022

minus

Geno	Mag	Summary
(A;A)	3.5	related to skin moles and melanoma
(T;T)	0	normal

Make rs113488022(C;C)

Make rs113488022(C;T)

Reference

GRCh38 38.1/141

Chromosome

7

Position

140753336

Gene

BRAF

is a	snp
is	mentioned by
dbSNP	rs113488022
dbSNP (classic)	rs113488022
ClinGen	rs113488022
ebi	rs113488022
HLI	rs113488022
Exac	rs113488022
Gnomad	rs113488022
Varsome	rs113488022
LitVar	rs113488022
Map	rs113488022
PheGenI	rs113488022
Biobank	rs113488022
1000 genomes	rs113488022
hgdp	rs113488022
ensembl	rs113488022
geneview	rs113488022
scholar	rs113488022
google	rs113488022
pharmgkb	rs113488022
gwascentral	rs113488022
openSNP	rs113488022
23andMe	rs113488022
SNPshot	rs113488022
SNPdbe	rs113488022
MSV3d	rs113488022
GWAS Ctlg	rs113488022

Max Magnitude

3.5

OMIM	164757
Desc
Variant	0001
Related	also

Also known as val600-to-glu (V600E) . Discussed at http://blogs.nature.com/freeassociation/2011/08/melanoma_sequencing_identifies_1.html

ClinVar
Risk	Rs113488022(A;A) rs113488022(C;C) rs113488022(G;G)
Alt	Rs113488022(A;A) rs113488022(C;C) rs113488022(G;G)
Reference	Rs113488022(T;T)
Significance	Pathogenic
Disease	Cardio-facio-cutaneous syndrome Malignant melanoma Carcinoma of colon Papillary thyroid carcinoma Astrocytoma Germ cell tumor Non-small cell lung cancer not provided Malignant melanoma of skin Colonic Neoplasms Squamous cell carcinoma of the head and neck Brainstem glioma Glioblastoma Adenocarcinoma of lung Multiple myeloma Ovarian Neoplasms Lung cancer Neoplasm of brain Gastrointestinal stromal tumor Papillary renal cell carcinoma Neoplasm Colorectal Neoplasms
Variation	info
Gene	BRAF
CLNDBN	Cardio-facio-cutaneous syndrome Malignant melanoma Carcinoma of colon Papillary thyroid carcinoma Astrocytoma, low-grade, somatic Germ cell tumor, nonseminomatous Non-small cell lung cancer not provided Malignant melanoma of skin Colonic Neoplasms Squamous cell carcinoma of the head and neck Brainstem glioma Glioblastoma Adenocarcinoma of lung Multiple myeloma Ovarian Neoplasms Lung cancer Neoplasm of brain Gastrointestinal stromal tumor Papillary renal cell carcinoma, sporadic Neoplasm Colorectal Neoplasms
Reversed	1
HGVS	NC_000007.13:g.140453136A>C; NC_000007.13:g.140453136A>G; NC_000007.13:g.140453136A>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000208774.1, RCV000433794.1, RCV000445347.1, RCV000014992.14, RCV000014993.15, RCV000014994.14, RCV000022677.14, RCV000037936.3, RCV000067669.14, RCV000080903.4, RCV000208763.1, RCV000417746.1, RCV000420614.1, RCV000424470.1, RCV000425166.1, RCV000425847.1, RCV000429915.1, RCV000430562.1, RCV000432628.1, RCV000433305.1, RCV000435441.1, RCV000440540.1, RCV000440802.1, RCV000443448.1, RCV000443745.1,

[PMID 21499247 ] Exome sequencing identifies GRIN2A as frequently mutated in melanoma.