Variant (rsID / SNP)

rs63750630

rs63750630 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MSH2. Location: chromosome 2, position 47,643,481. Clinical significance in the table: Pathogenic.

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Reference-table entries

MSH2Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 2:47643481
Cytoband: 2p21
HGVS: NM_000251.3(MSH2):c.989T>C (p.Leu330Pro)
Allele change: Missense_L330P

Associated conditions / phenotypes

Lynch syndrome|Colonic diverticula

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.