Variant (rsID / SNP)
rs180177042
rs180177042 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BRAF. Location: chromosome 7, position 140,449,165. 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
- 7:140449165
- Cytoband
- 7q34
- HGVS
- NM_004333.6(BRAF):c.1914T>A (p.Asp638Glu)
- Allele change
- Missense_D638E
Associated conditions / phenotypes
Cardiofaciocutaneous syndrome 1|Inborn genetic diseases|Noonan syndrome 7|LEOPARD syndrome 3|Cardiofaciocutaneous syndrome 1|Noonan syndrome 1|Lung carcinoma|RASopathy
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.