Variant (rsID / SNP)
rs1064794071
rs1064794071 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MSH2. Location: chromosome 2, position 47,698,108. Clinical significance in the table: Pathogenic.
Reference-table entries
MSH2Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- Deletion
- Chromosome / position
- 2:47698108
- Cytoband
- 2p21
- HGVS
- NM_000251.3(MSH2):c.1666_1672del (p.Leu556_Thr557insTer)
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.