Annotation Detail
Information
- Associated Genes
- FECH
- Associated Variants
-
FECH p.Phe423Ser (p.F423S)
(
ENST00000262093.11,
ENST00000382873.8,
ENST00000652755.1 )
FECH p.Phe423Ser (p.F423S) ( ENST00000262093.11, ENST00000382873.8, ENST00000652755.1 ) - Associated Disease
- Protoporphyria, erythropoietic, 1
- Source Database
- ClinVar
- Description
- NM_000140.5(FECH):c.1250T>C (p.Phe417Ser) AND Protoporphyria, erythropoietic, 1
- ClinVar Allele ID
- 15590
- ClinVar RefSeq Alternation Syntax
- NM_001371094.1:c.1151T>C
- ClinVar RefSeq Alternation Syntax
- NM_000140.5:c.1250T>C
- ClinVar RefSeq Alternation Syntax
- NM_001012515.4:c.1268T>C
- ClinVar RefSeq Alternation Syntax
- NM_001371095.1:c.1034T>C
- ClinVar RefSeq Alternation Syntax
- NM_001374778.1:c.1190T>C
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 1992-06-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000000581
- ClinVar Disease
- Protoporphyria, erythropoietic, 1
- Observed Origin Sample
- germline
- Pubmed
- 1376018
Drugs