Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs63751294

GRN

rs63751294 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GRN. Location: chromosome 17, position 42,429,772. Clinical significance in the table: Pathogenic.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

GRNPathogenic
Clinical significance (as recorded)
Pathogenic
Variant type
single nucleotide variant
Chromosome / position
17:42429772
Cytoband
17q21.31
HGVS
NM_002087.4(GRN):c.1477C>T (p.Arg493Ter)
Allele change
Nonsense_R493X

Associated conditions / phenotypes

Grn-related frontotemporal lobar degeneration with Tdp43 inclusions|Grn-related frontotemporal lobar degeneration with Tdp43 inclusions|Neuronal ceroid lipofuscinosis 11

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.