Annotation Detail
Information
- Associated Genes
- FECH
- Associated Variants
-
FECH c.333-48T>C
(
ENST00000262093.11,
ENST00000382873.8,
ENST00000652755.1 )
FECH c.333-48T>C ( ENST00000262093.11, ENST00000382873.8, ENST00000652755.1 ) - Associated Disease
- Autosomal erythropoietic protoporphyria
- Source Database
- ClinVar
- Description
- NM_000140.5(FECH):c.315-48T>C AND Autosomal erythropoietic protoporphyria
- ClinVar Allele ID
- 15601
- ClinVar RefSeq Alternation Syntax
- NM_001371094.1:c.315-48T>C
- ClinVar RefSeq Alternation Syntax
- NM_001012515.4:c.333-48T>C
- ClinVar RefSeq Alternation Syntax
- NM_000140.5:c.315-48T>C
- ClinVar RefSeq Alternation Syntax
- NM_001374778.1:c.315-48T>C
- ClinVar RefSeq Alternation Syntax
- NM_001371095.1:c.99-48T>C
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2023-10-04
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001195427
- ClinVar Disease
- Autosomal erythropoietic protoporphyria
- Observed Origin Sample
- germline
Drugs