Geno
|
Mag
|
Summary
|
(A;G)
|
7
|
Rasopathy; Cardio-facio-cutaneous syndrome
|
(G;G)
|
0
|
common in clinvar
|
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
ClinVar
|
Risk
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rs121913355(A;A) rs121913355(C;C) rs121913355(T;T) |
Alt
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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, |