Variant (rsID / SNP)

rs869025606

rs869025606 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BRAF. Location: chromosome 7, position 140,481,409. Clinical significance in the table: Pathogenic.

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Reference-table entries

BRAFPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 7:140481409
Cytoband: 7q34
HGVS: NM_004333.6(BRAF):c.1399T>G (p.Ser467Ala)
Allele change: Missense_S467A

Associated conditions / phenotypes

Cardio-facio-cutaneous syndrome

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.