rs121913355

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(A;G)	7	Rasopathy; Cardio-facio-cutaneous syndrome
(G;G)	0	common in clinvar

Make rs121913355(C;C)

Make rs121913355(C;G)

Reference

GRCh38 38.1/141

Chromosome

7

Position

140781602

Gene

BRAF

is a	snp
is	mentioned by
dbSNP	rs121913355
dbSNP (classic)	rs121913355
ClinGen	rs121913355
ebi	rs121913355
HLI	rs121913355
Exac	rs121913355
Gnomad	rs121913355
Varsome	rs121913355
LitVar	rs121913355
Map	rs121913355
PheGenI	rs121913355
Biobank	rs121913355
1000 genomes	rs121913355
hgdp	rs121913355
ensembl	rs121913355
geneview	rs121913355
scholar	rs121913355
google	rs121913355
pharmgkb	rs121913355
gwascentral	rs121913355
openSNP	rs121913355
23andMe	rs121913355
SNPshot	rs121913355
SNPdbe	rs121913355
MSV3d	rs121913355
GWAS Ctlg	rs121913355

Max Magnitude

7

rs121913355 represents several variants in the BRAF gene on chromosome 7. As represented in dbSNP on the minus strand, which is also the cDNA strand, the reference allele is rs121913355(G), also known as c.1406G.

The variant known as c.1406G>A (p.Gly469Glu) is annotated by an expert panel in ClinVar as associated with a rasopathy; whereas c.1406G>C and c.1406G>T are both annotated in ClinVar as somatic mutations seen in certain cancers.

23andMe name for c.1406G>A: i6008195

OMIM	164757
Desc
Variant	0010
Related	also

OMIM	164757
Desc
Variant	0014
Related	also

ClinVar
Risk	rs121913355(A;A) rs121913355(C;C) rs121913355(T;T)
Alt	rs121913355(A;A) rs121913355(C;C) rs121913355(T;T)
Reference	Rs121913355(G;G)
Significance	Pathogenic
Disease	Non-small cell lung cancer Multiple myeloma Colorectal Neoplasms Adenocarcinoma of prostate Adenocarcinoma of lung Neoplasm Transitional cell carcinoma of the bladder Squamous cell carcinoma of the skin Malignant melanoma of skin Squamous cell carcinoma of lung Malignant lymphoma Lung cancer Cardiofaciocutaneous syndrome 1 Rasopathy Cardio-facio-cutaneous syndrome not provided Malignant melanoma
Variation	info
Gene	BRAF
CLNDBN	Non-small cell lung cancer Multiple myeloma Colorectal Neoplasms Adenocarcinoma of prostate Adenocarcinoma of lung Neoplasm Transitional cell carcinoma of the bladder Squamous cell carcinoma of the skin Malignant melanoma of skin Squamous cell carcinoma of lung Malignant lymphoma, non-Hodgkin Lung cancer Cardiofaciocutaneous syndrome 1 Rasopathy Cardio-facio-cutaneous syndrome not provided Malignant melanoma
Reversed	1
HGVS	NC_000007.13:g.140481402C>A; NC_000007.13:g.140481402C>G; NC_000007.13:g.140481402C>T
CLNSRC	UniProtKB (protein) OMIM Allelic Variant
CLNACC	RCV000037919.2, RCV000418480.1, RCV000420102.1, RCV000425868.1, RCV000427987.1, RCV000430773.1, RCV000435417.1, RCV000436583.1, RCV000436805.1, RCV000445054.1, RCV000015005.9, RCV000150210.1, RCV000419278.1, RCV000421485.1, RCV000422572.1, RCV000430006.1, RCV000432193.1, RCV000432393.1, RCV000439564.1, RCV000439801.1, RCV000440864.1, RCV000444131.1, RCV000015008.30, RCV000033307.6, RCV000211748.1, RCV000212152.2, RCV000419555.1, RCV000419576.1, RCV000424773.1, RCV000427006.1, RCV000427215.1, RCV000434590.1, RCV000436804.1, RCV000437869.1, RCV000443381.1,