Variant (rsID / SNP)

rs863225401

rs863225401 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MSH6. Location: chromosome 2, position 48,027,005. Clinical significance in the table: Pathogenic/Likely pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

MSH6Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 2:48027005
Cytoband: 2p16.3
HGVS: NM_000179.3(MSH6):c.1883G>A (p.Trp628Ter)
Allele change: Nonsense_W498X

Associated conditions / phenotypes

Hereditary cancer-predisposing syndrome|Carcinoma of colon

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.