Annotation Detail
Information
- Associated Genes
- ZFPM2
- Associated Variants
-
ZFPM2 p.Glu30Gly (p.E30G)
(
ENST00000407775.7,
ENST00000520492.5 )
ZFPM2 p.Glu30Gly (p.E30G) ( ENST00000407775.7, ENST00000520492.5 ) - Associated Disease
- Diaphragmatic hernia 3
- Source Database
- ClinVar
- Description
- NM_012082.4(ZFPM2):c.89A>G (p.Glu30Gly) AND Diaphragmatic hernia 3
- ClinVar Allele ID
- 21167
- ClinVar RefSeq Alternation Syntax
- NM_001362836.2:c.41-25088A>G
- ClinVar RefSeq Alternation Syntax
- NM_012082.4:c.89A>G
- ClinVar RefSeq Alternation Syntax
- NM_001362837.2:c.-308A>G
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2015-04-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000172841
- ClinVar Disease
- Diaphragmatic hernia 3
- Observed Origin Sample
- germline
- Pubmed
- 20807224
- Pubmed
- 24702427
- Pubmed
- 14517948
Drugs