Variant (rsID / SNP)
rs398122991
rs398122991 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ALMS1. Location: chromosome 2, position 73,675,444. Clinical significance in the table: Pathogenic.
Reference-table entries
ALMS1Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- Duplication
- Chromosome / position
- 2:73675444
- Cytoband
- 2p13.1
- HGVS
- NM_001378454.1(ALMS1):c.1791_1798dup (p.Lys600delinsArgLeuTer)
Associated conditions / phenotypes
Alstrom syndrome|Retinal dystrophy
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.