Variant (rsID / SNP)

rs386834127

rs386834127 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CLN8. Location: chromosome 8, position 1,719,635. Clinical significance in the table: Likely pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

CLN8Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 8:1719635
Cytoband: 8p23.3
HGVS: NM_018941.4(CLN8):c.415C>T (p.His139Tyr)
Allele change: Missense_H139Y

Associated conditions / phenotypes

Neuronal ceroid lipofuscinosis 8

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.