Variant (rsID / SNP)

rs730881815

rs730881815 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MSH6. Location: chromosome 2, position 48,026,152. Clinical significance in the table: Uncertain significance.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

MSH6Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 2:48026152
Cytoband: 2p16.3
HGVS: NM_000179.3(MSH6):c.1030C>G (p.Gln344Glu)
Allele change: Missense_Q214E

Associated conditions / phenotypes

Hereditary nonpolyposis colorectal neoplasms|Hereditary cancer-predisposing syndrome

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.