Annotation Detail
Information
- Associated Genes
- FECH
- Associated Variants
-
FECH p.Met273Ile (p.M273I)
(
ENST00000262093.11,
ENST00000382873.8,
ENST00000652755.1 )
FECH p.Met273Ile (p.M273I) ( ENST00000262093.11, ENST00000382873.8, ENST00000652755.1 ) - Associated Disease
- Protoporphyria, erythropoietic, 1
- Source Database
- ClinVar
- Description
- NM_000140.5(FECH):c.801G>A (p.Met267Ile) AND Protoporphyria, erythropoietic, 1
- ClinVar Allele ID
- 15588
- ClinVar RefSeq Alternation Syntax
- NM_001374778.1:c.801G>A
- ClinVar RefSeq Alternation Syntax
- NM_000140.5:c.801G>A
- ClinVar RefSeq Alternation Syntax
- NM_001012515.4:c.819G>A
- ClinVar RefSeq Alternation Syntax
- NM_001371095.1:c.585G>A
- ClinVar RefSeq Alternation Syntax
- NM_001371094.1:c.705+3726G>A
- Clinical Significance Description
- Conflicting interpretations of pathogenicity
- Clinical Significance Last Update
- 2024-03-26
- Clinical Significance Review Status
- criteria provided, conflicting interpretations
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000000579
- ClinVar Disease
- Protoporphyria, erythropoietic, 1
- Observed Origin Sample
- germline
- Pubmed
- 1755842
Drugs