Annotation Detail
Information
- Associated Genes
- FECH
- Associated Variants
-
FECH p.Cys417Gly (p.C417G)
(
ENST00000262093.11,
ENST00000382873.8,
ENST00000652755.1 )
FECH p.Pro415Ser (p.P415S) ( ENST00000262093.11, ENST00000382873.8, ENST00000652755.1 )
FECH p.Asn414Lys (p.N414K) ( ENST00000262093.11, ENST00000382873.8, ENST00000652755.1 )
FECH p.Cys417Gly (p.C417G) ( ENST00000262093.11, ENST00000382873.8, ENST00000652755.1 )
FECH p.Pro415Ser (p.P415S) ( ENST00000262093.11, ENST00000382873.8, ENST00000652755.1 )
FECH p.Asn414Lys (p.N414K) ( ENST00000262093.11, ENST00000382873.8, ENST00000652755.1 ) - Associated Disease
- Protoporphyria, erythropoietic, 1
- Source Database
- ClinVar
- Description
- NM_000140.3(FECH):c.[1224T>A;1225C>T;1231T>G] AND Protoporphyria, erythropoietic, 1
- ClinVar Allele ID
- 38382
- ClinVar Allele ID
- 15600
- ClinVar Allele ID
- 38381
- ClinVar RefSeq Alternation Syntax
- NM_001012515.4:c.1249T>G
- ClinVar RefSeq Alternation Syntax
- NM_001374778.1:c.1171T>G
- ClinVar RefSeq Alternation Syntax
- NM_001371094.1:c.1125T>A
- ClinVar RefSeq Alternation Syntax
- NM_000140.5:c.1231T>G
- ClinVar RefSeq Alternation Syntax
- NM_001371094.1:c.1126C>T
- ClinVar RefSeq Alternation Syntax
- NM_000140.5:c.1224T>A
- ClinVar RefSeq Alternation Syntax
- NM_000140.5:c.1225C>T
- ClinVar RefSeq Alternation Syntax
- NM_001371094.1:c.1132T>G
- ClinVar RefSeq Alternation Syntax
- NM_001371095.1:c.1015T>G
- ClinVar RefSeq Alternation Syntax
- NM_001371095.1:c.1009C>T
- ClinVar RefSeq Alternation Syntax
- NM_001371095.1:c.1008T>A
- ClinVar RefSeq Alternation Syntax
- NM_001374778.1:c.1164T>A
- ClinVar RefSeq Alternation Syntax
- NM_001012515.4:c.1243C>T
- ClinVar RefSeq Alternation Syntax
- NM_001012515.4:c.1242T>A
- ClinVar RefSeq Alternation Syntax
- NM_001374778.1:c.1165C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2000-08-15
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000000591
- ClinVar Disease
- Protoporphyria, erythropoietic, 1
- Observed Origin Sample
- germline
- Pubmed
- 10942404
Drugs