Variant (rsID / SNP)
rs180177034
rs180177034 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BRAF. Location: chromosome 7, position 140,501,336. Clinical significance in the table: Pathogenic.
Reference-table entries
BRAFPathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 7:140501336
- Cytoband
- 7q34
- HGVS
- NM_004333.6(BRAF):c.736G>C (p.Ala246Pro)
- Allele change
- Missense_A246P
Associated conditions / phenotypes
Cardiofaciocutaneous syndrome 1|Noonan syndrome|Cardio-facio-cutaneous syndrome|Cardio-facio-cutaneous syndrome|Noonan syndrome|RASopathy
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.