Variant (rsID / SNP)
rs121913341
rs121913341 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BRAF. Location: chromosome 7, position 140,453,150. Clinical significance in the table: Pathogenic.
Reference-table entries
BRAFPathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 7:140453150
- Cytoband
- 7q34
- HGVS
- NM_004333.6(BRAF):c.1785T>G (p.Phe595Leu)
- Allele change
- Missense_F595L
Associated conditions / phenotypes
Cardio-facio-cutaneous syndrome|Neoplasm|Melanoma|RASopathy
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.