Variant (rsID / SNP)

rs267608048

rs267608048 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MSH6. Location: chromosome 2, position 48,025,877. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

MSH6Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 2:48025877
Cytoband: 2p16.3
HGVS: NM_000179.3(MSH6):c.755C>G (p.Ser252Ter)
Allele change: Nonsense_S122X

Associated conditions / phenotypes

Lynch syndrome|Endometrial carcinoma

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.