Annotation Detail
Information
- Associated Genes
- FECH
- Associated Variants
-
FECH p.Gly55Ser (p.G55S)
(
ENST00000262093.11,
ENST00000382873.8,
ENST00000652755.1 )
FECH p.Gly55Ser (p.G55S) ( ENST00000262093.11, ENST00000382873.8, ENST00000652755.1 ) - Associated Disease
- FECH-related disorder
- Source Database
- ClinVar
- Description
- NM_000140.5(FECH):c.163G>A (p.Gly55Ser) AND FECH-related disorder
- ClinVar Allele ID
- 1544624
- ClinVar RefSeq Alternation Syntax
- NM_001371094.1:c.163G>A
- ClinVar RefSeq Alternation Syntax
- NM_001374778.1:c.163G>A
- ClinVar RefSeq Alternation Syntax
- NM_000140.5:c.163G>A
- ClinVar RefSeq Alternation Syntax
- NM_001012515.4:c.163G>A
- ClinVar RefSeq Alternation Syntax
- NM_001371095.1:c.-54G>A
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2019-12-03
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003923632
- ClinVar Disease
- FECH-related disorder
- Observed Origin Sample
- germline
Drugs