Variant (rsID / SNP)
rs121913355
rs121913355 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BRAF. Location: chromosome 7, position 140,481,402. Clinical significance in the table: Pathogenic.
Reference-table entries
BRAFPathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 7:140481402
- Cytoband
- 7q34
- HGVS
- NM_004333.6(BRAF):c.1406G>C (p.Gly469Ala)
- Allele change
- Missense_G469E
Associated conditions / phenotypes
Non-Hodgkin lymphoma|Non-small cell lung carcinoma|Neoplasm of the large intestine|Squamous cell carcinoma of the skin|Lung adenocarcinoma|Neoplasm|Malignant melanoma of skin|Squamous cell lung carcinoma|Prostate adenocarcinoma|Lung carcinoma|Transitional cell carcinoma of the bladder|Multiple myeloma
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.