Variant (rsID / SNP)
rs25646
rs25646 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GRN. Location: chromosome 17, position 42,427,630. Clinical significance in the table: Benign/Likely benign.
Reference-table entries
GRNBenign
- Clinical significance (as recorded)
- Benign/Likely benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 17:42427630
- Cytoband
- 17q21.31
- HGVS
- NM_002087.4(GRN):c.384T>C (p.Asp128=)
- Allele change
- Synonymous_D128D
Associated conditions / phenotypes
Grn-related frontotemporal lobar degeneration with Tdp43 inclusions|Seizure|Neuronal ceroid lipofuscinosis 11|Grn-related frontotemporal lobar degeneration with Tdp43 inclusions
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.