Variant (rsID / SNP)

rs121913340

rs121913340 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BRAF. Location: chromosome 7, position 140,453,179. Clinical significance in the table: Uncertain significance.

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Reference-table entries

BRAFUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 7:140453179
Cytoband: 7q34
HGVS: NM_004333.6(BRAF):c.1756G>A (p.Glu586Lys)
Allele change: Missense_E586K

Associated conditions / phenotypes

Melanoma|Neoplasm

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.