Variant (rsID / SNP)
rs386833771
rs386833771 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CUBN. Location: chromosome 10, position 17,130,245. Clinical significance in the table: Pathogenic.
Reference-table entries
CUBNPathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- Deletion
- Chromosome / position
- 10:17130245
- Cytoband
- 10p13
- HGVS
- NM_001081.4(CUBN):c.1865del (p.Thr622fs)
Associated conditions / phenotypes
Imerslund-Grasbeck syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.