Annotation Detail
Information
- Associated Genes
- ELAC2
- Associated Variants
-
ELAC2 p.Ser217Leu (p.S217L)
(
ENST00000338034.9,
ENST00000395962.6,
ENST00000426905.7 )
ELAC2 p.Ser217Leu (p.S217L) ( ENST00000338034.9, ENST00000395962.6, ENST00000426905.7 ) - Associated Disease
- not specified
- Source Database
- ClinVar
- Description
- NM_018127.7(ELAC2):c.650C>T (p.Ser217Leu) AND not specified
- ClinVar Allele ID
- 20094
- ClinVar RefSeq Alternation Syntax
- NM_018127.7:c.650C>T
- ClinVar RefSeq Alternation Syntax
- NM_001165962.2:c.560-1021C>T
- ClinVar RefSeq Alternation Syntax
- NM_173717.2:c.650C>T
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2016-01-18
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000419055
- ClinVar Disease
- not specified
- Observed Origin Sample
- germline
Drugs