Annotation Detail
Information
- Associated Genes
- ZFPM2
- Associated Variants
-
ZFPM2 p.Arg112Ter (p.R112*)
(
ENST00000407775.7,
ENST00000517361.1,
ENST00000520492.5 )
ZFPM2 p.Arg112Ter (p.R112*) ( ENST00000407775.7, ENST00000517361.1, ENST00000520492.5 ) - Associated Disease
- Diaphragmatic hernia 3
- Source Database
- ClinVar
- Description
- NM_012082.4(ZFPM2):c.334C>T (p.Arg112Ter) AND Diaphragmatic hernia 3
- ClinVar Allele ID
- 21168
- ClinVar RefSeq Alternation Syntax
- NM_001362836.2:c.175C>T
- ClinVar RefSeq Alternation Syntax
- NM_012082.4:c.334C>T
- ClinVar RefSeq Alternation Syntax
- NM_001362837.2:c.-63C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2005-07-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000006503
- ClinVar Disease
- Diaphragmatic hernia 3
- Observed Origin Sample
- germline
- Pubmed
- 16103912
Drugs