Annotation Detail
Information
- Associated Genes
- EPHX1
- Associated Variants
-
EPHX1 p.His139Arg (p.H139R)
(
ENST00000272167.10,
ENST00000366837.5,
ENST00000614058.4 )
EPHX1 p.His139Arg (p.H139R) ( ENST00000272167.10, ENST00000366837.5, ENST00000614058.4 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_001136018.4(EPHX1):c.416A>G (p.His139Arg) AND not provided
- ClinVar Allele ID
- 31644
- ClinVar RefSeq Alternation Syntax
- NM_001378432.1:c.365-3661A>G
- ClinVar RefSeq Alternation Syntax
- NM_001378426.1:c.416A>G
- ClinVar RefSeq Alternation Syntax
- NM_001291163.2:c.416A>G
- ClinVar RefSeq Alternation Syntax
- NM_001378429.1:c.416A>G
- ClinVar RefSeq Alternation Syntax
- NR_165626.1:n.913A>G
- ClinVar RefSeq Alternation Syntax
- NM_001136018.4:c.416A>G
- ClinVar RefSeq Alternation Syntax
- NM_001378428.1:c.389A>G
- ClinVar RefSeq Alternation Syntax
- NM_000120.4:c.416A>G
- ClinVar RefSeq Alternation Syntax
- NR_165625.1:n.467A>G
- ClinVar RefSeq Alternation Syntax
- NM_001378431.1:c.365-512A>G
- ClinVar RefSeq Alternation Syntax
- NM_001378427.1:c.416A>G
- ClinVar RefSeq Alternation Syntax
- NM_001378430.1:c.416A>G
- ClinVar RefSeq Alternation Syntax
- NR_165627.1:n.612A>G
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2018-11-11
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001723577
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs