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
- Grn-related frontotemporal lobar degeneration with Tdp43 inclusions neuronal ceroid lipofuscinosis 11
- Source Database
- ClinVar
- Description
- NM_002087.4(GRN):c.*78C>T AND multiple conditions
- ClinVar Allele ID
- 38697
- ClinVar RefSeq Alternation Syntax
- NM_002087.4:c.*78C>T
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2024-01-15
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000650262
- ClinVar Disease
- Neuronal ceroid lipofuscinosis 11
- ClinVar Disease
- GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
- Observed Origin Sample
- germline
Drugs