Variant (rsID / SNP)
rs180177036
rs180177036 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BRAF. Location: chromosome 7, position 140,477,853. Clinical significance in the table: Pathogenic.
Reference-table entries
BRAFPathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 7:140477853
- Cytoband
- 7q34
- HGVS
- NM_004333.6(BRAF):c.1455G>C (p.Leu485Phe)
- Allele change
- Missense_L485F
Associated conditions / phenotypes
Cardiofaciocutaneous syndrome 1|Cardio-facio-cutaneous syndrome|Cardio-facio-cutaneous syndrome|Noonan syndrome|RASopathy|Inborn genetic diseases|Ataxia-telangiectasia syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.