Annotation Detail
Information
- Associated Genes
- FECH
- Associated Variants
-
FECH p.Asn69Asp (p.N69D)
(
ENST00000262093.11,
ENST00000382873.8,
ENST00000652755.1 )
FECH p.Asn69Asp (p.N69D) ( ENST00000262093.11, ENST00000382873.8, ENST00000652755.1 ) - Associated Disease
- Protoporphyria, erythropoietic, 1
- Source Database
- ClinVar
- Description
- NM_000140.5(FECH):c.194+11A>G AND Protoporphyria, erythropoietic, 1
- ClinVar Allele ID
- 15598
- ClinVar RefSeq Alternation Syntax
- NM_001371095.1:c.-23+11A>G
- ClinVar RefSeq Alternation Syntax
- NM_000140.5:c.194+11A>G
- ClinVar RefSeq Alternation Syntax
- NM_001012515.4:c.205A>G
- ClinVar RefSeq Alternation Syntax
- NM_001374778.1:c.194+11A>G
- ClinVar RefSeq Alternation Syntax
- NM_001371094.1:c.194+11A>G
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 1998-07-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000000589
- ClinVar Disease
- Protoporphyria, erythropoietic, 1
- Observed Origin Sample
- germline
- Pubmed
- 9649563
Drugs