Variant (rsID / SNP)

rs137852695

rs137852695 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PPT1. Location: chromosome 1, position 40,557,070. 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: 1:40557070
Cytoband: 1p34.2
HGVS: NM_000310.4(PPT1):c.364A>T (p.Arg122Trp)
Allele change: Missense_R122W

Associated conditions / phenotypes

Neuronal ceroid lipofuscinosis 1|Inborn genetic diseases|Neuronal ceroid lipofuscinosis

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.