Annotation Detail
Information
- Associated Genes
- EGF LOC126807134
- Associated Variants
-
EGF p.Asp784Val (p.D784V)
(
ENST00000265171.10,
ENST00000503392.1,
ENST00000509793.5,
ENST00000652245.1 )
EGF p.Asp784Val (p.D784V) ( ENST00000265171.10, ENST00000503392.1, ENST00000509793.5, ENST00000652245.1 ) - Associated Disease
- renal hypomagnesemia 4
- Source Database
- ClinVar
- Description
- NM_001963.6(EGF):c.2351A>T (p.Asp784Val) AND Renal hypomagnesemia 4
- ClinVar Allele ID
- 296747
- ClinVar RefSeq Alternation Syntax
- NM_001178130.3:c.2351A>T
- ClinVar RefSeq Alternation Syntax
- NM_001357021.2:c.2225A>T
- ClinVar RefSeq Alternation Syntax
- NM_001963.6:c.2351A>T
- ClinVar RefSeq Alternation Syntax
- NM_001178131.3:c.2225A>T
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2018-03-06
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000297814
- ClinVar Disease
- Renal hypomagnesemia 4
- Observed Origin Sample
- germline
Drugs