Variant (rsID / SNP)
rs45612435
rs45612435 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MET. Location: chromosome 7, position 116,414,971. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
METConflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 7:116414971
- Cytoband
- 7q31.2
- HGVS
- NM_000245.4(MET):c.3065G>A (p.Arg1022Gln)
- Allele change
- Missense_R592Q
Associated conditions / phenotypes
Renal cell carcinoma, papillary, 1|Hereditary cancer-predisposing syndrome|Renal cell carcinoma
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.
