Variant (rsID / SNP)
rs41292019
rs41292019 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TBK1. Location: chromosome 12, position 64,849,716. Clinical significance in the table: Benign.
Reference-table entries
TBK1Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 12:64849716
- Cytoband
- 12q14.2
- HGVS
- NM_013254.4(TBK1):c.66T>C (p.Asn22=)
- Allele change
- Synonymous_N22N
Associated conditions / phenotypes
Frontotemporal dementia and/or amyotrophic lateral sclerosis 4|Glaucoma 1, open angle, P
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.