Variant (rsID / SNP)
rs56391007
rs56391007 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MET. Location: chromosome 7, position 116,411,990. 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
- 7:116411990
- Cytoband
- 7q31.2
- HGVS
- NM_000245.4(MET):c.2975C>T (p.Thr992Ile)
- Allele change
- Missense_T562I
Associated conditions / phenotypes
Renal cell carcinoma, papillary, 1|Hereditary cancer-predisposing syndrome|Congenital diaphragmatic hernia|Carcinoma|Neoplasm|Renal cell carcinoma|Classic Hodgkin lymphoma
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.