Variant (rsID / SNP)

rs121913243

rs121913243 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MET. Location: chromosome 7, position 116,417,464. Clinical significance in the table: Pathogenic.

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Reference-table entries

METPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 7:116417464
Cytoband: 7q31.2
HGVS: NM_000245.4(MET):c.3281A>G (p.His1094Arg)
Allele change: Missense_H664R

Associated conditions / phenotypes

Renal cell carcinoma, papillary, 1|Renal carcinoma|Renal cell carcinoma

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.