Variant (rsID / SNP)
rs180177035
rs180177035 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BRAF. Location: chromosome 7, position 140,501,302. Clinical significance in the table: Pathogenic.
Reference-table entries
BRAFPathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 7:140501302
- Cytoband
- 7q34
- HGVS
- NM_004333.6(BRAF):c.770A>G (p.Gln257Arg)
- Allele change
- Missense_Q257R
Associated conditions / phenotypes
Cardiofaciocutaneous syndrome 1|RASopathy|Cardio-facio-cutaneous syndrome|Inborn genetic diseases|Cardiofaciocutaneous syndrome 1|Noonan syndrome 7|LEOPARD syndrome 3|Noonan syndrome 7|LEOPARD syndrome 3|Noonan syndrome and Noonan-related syndrome|Noonan syndrome 1
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.