Annotation Detail
Information
- Associated Genes
- FTL GYS1
- Associated Variants
-
FTL p.Leu55= (p.L55=)
(
ENST00000331825.11 )
FTL p.Leu55= (p.L55=) ( ENST00000331825.11 ) - Associated Disease
- Hereditary hyperferritinemia with congenital cataracts
- Source Database
- ClinVar
- Description
- NM_000146.4(FTL):c.163T>C (p.Leu55=) AND Hereditary hyperferritinemia with congenital cataracts
- ClinVar Allele ID
- 166213
- ClinVar RefSeq Alternation Syntax
- NM_000146.4:c.163T>C
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2021-08-10
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000369896
- ClinVar Disease
- Hereditary hyperferritinemia with congenital cataracts
- Observed Origin Sample
- germline
- Observed Origin Sample
- unknown
Drugs