Variant (rsID / SNP)

rs121913375

rs121913375 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BRAF. Location: chromosome 7, position 140,453,139. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

BRAFPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 7:140453139
Cytoband: 7q34
HGVS: NM_004333.6(BRAF):c.1796C>T (p.Thr599Ile)
Allele change: Missense_T599I

Associated conditions / phenotypes

Melanoma|Neoplasm|Noonan syndrome|RASopathy|Cardiofaciocutaneous syndrome 1

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.