Annotation Detail
Information
- Associated Genes
- EPHX2
- Associated Variants
-
EPHX2 p.Lys55Arg (p.K55R)
(
ENST00000380476.7,
ENST00000517536.5,
ENST00000518379.5,
ENST00000521400.6,
ENST00000521780.5 )
EPHX2 p.Lys55Arg (p.K55R) ( ENST00000380476.7, ENST00000517536.5, ENST00000518379.5, ENST00000521400.6, ENST00000521780.5 ) - Associated Disease
- EPHX2-related disorder
- Source Database
- ClinVar
- Description
- NM_001979.6(EPHX2):c.164A>G (p.Lys55Arg) AND EPHX2-related disorder
- ClinVar Allele ID
- 3193313
- ClinVar RefSeq Alternation Syntax
- NM_001414017.1:c.164A>G
- ClinVar RefSeq Alternation Syntax
- NM_001414019.1:c.164A>G
- ClinVar RefSeq Alternation Syntax
- NM_001414022.1:c.164A>G
- ClinVar RefSeq Alternation Syntax
- NM_001414020.1:c.164A>G
- ClinVar RefSeq Alternation Syntax
- NM_001256482.2:c.5A>G
- ClinVar RefSeq Alternation Syntax
- NR_182231.1:n.230A>G
- ClinVar RefSeq Alternation Syntax
- NR_182233.1:n.230A>G
- ClinVar RefSeq Alternation Syntax
- NM_001256483.2:c.-12-2616A>G
- ClinVar RefSeq Alternation Syntax
- NM_001414021.1:c.164A>G
- ClinVar RefSeq Alternation Syntax
- NM_001414018.1:c.164A>G
- ClinVar RefSeq Alternation Syntax
- NM_001414016.1:c.164A>G
- ClinVar RefSeq Alternation Syntax
- NR_182232.1:n.230A>G
- ClinVar RefSeq Alternation Syntax
- NM_001414023.1:c.164A>G
- ClinVar RefSeq Alternation Syntax
- NM_001256484.2:c.5A>G
- ClinVar RefSeq Alternation Syntax
- NM_001979.6:c.164A>G
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2019-10-21
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003974480
- ClinVar Disease
- EPHX2-related disorder
- Observed Origin Sample
- germline
Drugs