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rs121913355

From SNPedia
Orientationminus
Stabilizedminus
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)
ReferenceGRCh38 38.1/141
Chromosome7
Position140781602
GeneBRAF
is asnp
is mentioned by
dbSNPrs121913355
dbSNP (old)rs121913355
ClinGenrs121913355
ebirs121913355
HLIrs121913355
Exacrs121913355
Gnomadrs121913355
Varsomers121913355
Maprs121913355
PheGenIrs121913355
Biobankrs121913355
1000 genomesrs121913355
hgdprs121913355
ensemblrs121913355
gopubmedrs121913355
geneviewrs121913355
scholarrs121913355
googlers121913355
pharmgkbrs121913355
gwascentralrs121913355
openSNPrs121913355
23andMers121913355
23andMe allrs121913355
SNPshotrs121913355
SNPdbers121913355
MSV3drs121913355
GWAS Ctlgrs121913355
Max Magnitude7

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

OMIM164757
Desc
Variant0010
Relatedalso
OMIM164757
Desc
Variant0014
Relatedalso
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,