Variant (rsID / SNP)

rs45520237

rs45520237 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MET. Location: chromosome 7, position 116,397,560. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

METConflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 7:116397560
Cytoband: 7q31.2
HGVS: NM_000245.4(MET):c.1932C>T (p.His644=)
Allele change: Synonymous_H214H

Associated conditions / phenotypes

Hereditary cancer-predisposing syndrome|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.