Variant (rsID / SNP)
rs4987188
rs4987188 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MSH2. Location: chromosome 2, position 47,643,457. Clinical significance in the table: Benign.
Reference-table entries
MSH2Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 2:47643457
- Cytoband
- 2p21
- HGVS
- NM_000251.3(MSH2):c.965G>A (p.Gly322Asp)
- Allele change
- Missense_G322D
Associated conditions / phenotypes
MSH2 POLYMORPHISM|Lynch syndrome|Lynch syndrome 1|Hereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms|Breast carcinoma|Carcinoma of colon
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.