Variant (rsID / SNP)

rs794727865

rs794727865 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BRAF. Location: chromosome 7, position 140,500,224. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

BRAFConflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 7:140500224
Cytoband: 7q34
HGVS: NM_004333.6(BRAF):c.918C>G (p.Ser306=)
Allele change: Synonymous_S306S

Associated conditions / phenotypes

RASopathy

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.