Variant (rsID / SNP)

rs121913376

rs121913376 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BRAF. Location: chromosome 7, position 140,481,397. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

BRAFPathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 7:140481397
Cytoband: 7q34
HGVS: NM_004333.6(BRAF):c.1411G>T (p.Val471Phe)
Allele change: Missense_V471F

Associated conditions / phenotypes

Melanoma|RASopathy|Ataxia-telangiectasia 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.