Variant (rsID / SNP)
rs606231167
rs606231167 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PNPLA6. Location: chromosome 19, position 7,620,613. Clinical significance in the table: Pathogenic.
Reference-table entries
PNPLA6Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- Duplication
- Chromosome / position
- 19:7620613
- Cytoband
- 19p13.2
- HGVS
- NM_001166114.2(PNPLA6):c.3058_3061dup (p.Arg1021fs)
Associated conditions / phenotypes
Hereditary spastic paraplegia 39|Laurence-Moon syndrome|Trichomegaly-retina pigmentary degeneration-dwarfism syndrome|PNPLA6-related disorders|Inborn genetic diseases|Ataxia-hypogonadism-choroidal dystrophy syndrome|Hereditary spastic paraplegia
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.