Annotation Detail
Information
- Associated Genes
- FTL GYS1
- Associated Variants
-
GYS1 c.*725C>T
(
ENST00000263276.6,
ENST00000323798.8 )
GYS1 c.*725C>T ( ENST00000263276.6, ENST00000323798.8 ) - Associated Disease
- Neuroferritinopathy
- Source Database
- ClinVar
- Description
- NM_002103.5(GYS1):c.*725C>T AND Neuroferritinopathy
- ClinVar Allele ID
- 349230
- ClinVar RefSeq Alternation Syntax
- NM_001161587.2:c.*725C>T
- ClinVar RefSeq Alternation Syntax
- NM_002103.5:c.*725C>T
- ClinVar RefSeq Alternation Syntax
- NR_027763.2:n.2954C>T
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2016-06-14
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000289397
- ClinVar Disease
- Neuroferritinopathy
- Observed Origin Sample
- germline
Drugs