Variant (rsID / SNP)

rs137852696

rs137852696 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PPT1. Location: chromosome 1, position 40,558,081. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

PPT1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 1:40558081
Cytoband: 1p34.2
HGVS: NM_000310.4(PPT1):c.223A>C (p.Thr75Pro)
Allele change: Missense_T75P

Associated conditions / phenotypes

Neuronal ceroid lipofuscinosis 1|Retinitis pigmentosa

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.