Variant (rsID / SNP)
rs121913364
rs121913364 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BRAF. Location: chromosome 7, position 140,453,134. Clinical significance in the table: Pathogenic.
Reference-table entries
BRAFPathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 7:140453134
- Cytoband
- 7q34
- HGVS
- NM_004333.6(BRAF):c.1801A>G (p.Lys601Glu)
- Allele change
- Missense_K601E
Associated conditions / phenotypes
Carcinoma of colon|Thyroid cancer, nonmedullary, 2|Non-small cell lung carcinoma|Gastric adenocarcinoma|Malignant neoplasm of body of uterus|Malignant melanoma of skin|Lung adenocarcinoma|Thyroid tumor|Prostate adenocarcinoma|B-cell chronic lymphocytic leukemia|Neoplasm|Melanoma
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.