Annotation Detail
Information
- Associated Genes
- ZFP57
- Associated Variants
-
ZFP57 p.Asp242Tyr (p.D242Y)
(
ENST00000376883.2,
ENST00000488757.6 )
ZFP57 p.Asp242Tyr (p.D242Y) ( ENST00000376883.2, ENST00000488757.6 ) - Associated Disease
- Diabetes mellitus, transient neonatal, 1
- Source Database
- ClinVar
- Description
- NM_001109809.5(ZFP57):c.724G>T (p.Asp242Tyr) AND Diabetes mellitus, transient neonatal, 1
- ClinVar Allele ID
- 513062
- ClinVar RefSeq Alternation Syntax
- NM_001109809.5:c.724G>T
- ClinVar RefSeq Alternation Syntax
- NM_001366333.2:c.508G>T
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2017-11-28
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000625683
- ClinVar Disease
- Diabetes mellitus, transient neonatal, 1
- Observed Origin Sample
- germline
Drugs