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