Variant (rsID / SNP)
rs387906661
rs387906661 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BRAF. Location: chromosome 7, position 140,501,351. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
BRAFPathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 7:140501351
- Cytoband
- 7q34
- HGVS
- NM_004333.6(BRAF):c.721A>C (p.Thr241Pro)
- Allele change
- Missense_T241P
Associated conditions / phenotypes
Cardiofaciocutaneous syndrome 1|LEOPARD syndrome 3|Noonan syndrome with multiple lentigines|Cardio-facio-cutaneous syndrome|Lung carcinoma|Noonan syndrome 1|Cardiofaciocutaneous syndrome 1|LEOPARD syndrome 3|Noonan syndrome 7|RASopathy|Cardiofaciocutaneous syndrome 1|LEOPARD syndrome 3|Noonan syndrome 7|Noonan syndrome 7
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.