Annotation Detail
Information
- Associated Genes
- EPHX1
- Associated Variants
-
EPHX1 p.Tyr113His (p.Y113H)
(
ENST00000614058.4,
ENST00000272167.10,
ENST00000366837.5 )
EPHX1 p.Tyr113His (p.Y113H) ( ENST00000272167.10, ENST00000366837.5, ENST00000614058.4 ) - Associated Disease
- EPOXIDE HYDROLASE 1 POLYMORPHISM
- Source Database
- ClinVar
- Description
- NM_001136018.4(EPHX1):c.337T>C (p.Tyr113His) AND EPOXIDE HYDROLASE 1 POLYMORPHISM
- ClinVar Allele ID
- 31643
- ClinVar RefSeq Alternation Syntax
- NR_165626.1:n.834T>C
- ClinVar RefSeq Alternation Syntax
- NM_001291163.2:c.337T>C
- ClinVar RefSeq Alternation Syntax
- NM_001378430.1:c.337T>C
- ClinVar RefSeq Alternation Syntax
- NM_001378426.1:c.337T>C
- ClinVar RefSeq Alternation Syntax
- NM_000120.4:c.337T>C
- ClinVar RefSeq Alternation Syntax
- NR_165627.1:n.533T>C
- ClinVar RefSeq Alternation Syntax
- NM_001136018.4:c.337T>C
- ClinVar RefSeq Alternation Syntax
- NM_001378429.1:c.337T>C
- ClinVar RefSeq Alternation Syntax
- NM_001378432.1:c.337T>C
- ClinVar RefSeq Alternation Syntax
- NM_001378427.1:c.337T>C
- ClinVar RefSeq Alternation Syntax
- NR_165625.1:n.388T>C
- ClinVar RefSeq Alternation Syntax
- NM_001378428.1:c.310T>C
- ClinVar RefSeq Alternation Syntax
- NM_001378431.1:c.337T>C
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2001-06-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000018075
- ClinVar Disease
- EPOXIDE HYDROLASE 1 POLYMORPHISM
- Observed Origin Sample
- germline
- Pubmed
- 7516776
- Pubmed
- 11406608
- Pubmed
- 11283205
- Pubmed
- 7892276
Drugs