Annotation Detail
Information
- Associated Genes
- FECH
- Associated Variants
-
FECH p.Tyr200LeufsTer16 (p.Y200Lfs*16)
(
ENST00000262093.11,
ENST00000382873.8,
ENST00000652755.1 )
FECH p.Tyr200LeufsTer16 (p.Y200Lfs*16) ( ENST00000262093.11, ENST00000382873.8, ENST00000652755.1 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_000140.5(FECH):c.580_584del (p.Tyr194fs) AND not provided
- ClinVar Allele ID
- 15599
- ClinVar RefSeq Alternation Syntax
- NM_001374778.1:c.580_584del
- ClinVar RefSeq Alternation Syntax
- NM_001012515.4:c.598_602del
- ClinVar RefSeq Alternation Syntax
- NM_000140.5:c.580_584del
- ClinVar RefSeq Alternation Syntax
- NM_001371094.1:c.580_584del
- ClinVar RefSeq Alternation Syntax
- NM_001371095.1:c.364_368del
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2023-03-09
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003555881
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs