Variant (rsID / SNP)
rs113488022
rs113488022 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BRAF. Location: chromosome 7, position 140,453,136. Clinical significance in the table: Pathogenic; drug response; other.
Reference-table entries
- Clinical significance (as recorded)
- Pathogenic; drug response; other
- Variant type
- single nucleotide variant
- Chromosome / position
- 7:140453136
- Cytoband
- 7q34
- HGVS
- NM_004333.6(BRAF):c.1799T>A (p.Val600Glu)
- Allele change
- Missense_V600A
Associated conditions / phenotypes
Carcinoma of colon|Papillary thyroid carcinoma|Astrocytoma, low-grade, somatic|Nongerminomatous germ cell tumor|Non-small cell lung carcinoma|Melanoma|Cardio-facio-cutaneous syndrome|Malignant melanoma of skin|Squamous cell carcinoma of the head and neck|Colonic neoplasm|Glioblastoma|Neoplasm of ovary|Lung adenocarcinoma|Brainstem glioma|Papillary renal cell carcinoma, sporadic|Multiple myeloma|Neoplasm of the large intestine|Lung carcinoma|Neoplasm of brain|Gastrointestinal stromal tumor|Neoplasm|Cystic epithelial invagination containing papillae lined by columnar epithelium|Cerebral arteriovenous malformation|Vemurafenib-Cobimetinib Response|Colorectal cancer|Trametinib-Dabrafenib Response|Nephroblastoma|Malignant neoplastic disease|Lymphangioma|See cases
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.