Variant (rsID / SNP)

rs200002171

rs200002171 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BRAF. Location: chromosome 7, position 140,494,281. 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: 7:140494281
Cytoband: 7q34
HGVS: NM_004333.6(BRAF):c.981-14C>A
Allele change: Silent

Associated conditions / phenotypes

Noonan syndrome 7|LEOPARD syndrome 3|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.