Annotation Detail
Information
- Associated Genes
- GRN
- Associated Variants
-
GRN c.*78C>T
(
ENST00000589265.5,
ENST00000053867.8 )
GRN c.*78C>T ( ENST00000053867.8, ENST00000589265.5 ) - Associated Disease
- FRONTOTEMPORAL LOBAR DEGENERATION WITH UBIQUITIN-POSITIVE INCLUSIONS, SUSCEPTIBILITY TO
- Source Database
- ClinVar
- Description
- NM_002087.4(GRN):c.*78C>T AND FRONTOTEMPORAL LOBAR DEGENERATION WITH UBIQUITIN-POSITIVE INCLUSIONS, SUSCEPTIBILITY TO
- ClinVar Allele ID
- 38697
- ClinVar RefSeq Alternation Syntax
- NM_002087.4:c.*78C>T
- Clinical Significance Description
- risk factor
- Clinical Significance Last Update
- 2008-12-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000022594
- ClinVar Disease
- FRONTOTEMPORAL LOBAR DEGENERATION WITH UBIQUITIN-POSITIVE INCLUSIONS, SUSCEPTIBILITY TO
- Observed Origin Sample
- germline
- Pubmed
- 18723524
Drugs