Annotation Detail
Information
- Associated Genes
- SKIC2 LOC126859653
- Associated Variants
-
SKIC2 c.1212-50G>T
(
ENST00000375394.7,
ENST00000491994.2,
ENST00000697831.1,
ENST00000697838.1,
ENST00000697840.1 )
SKIC2 c.1212-50G>T ( ENST00000375394.7, ENST00000491994.2, ENST00000697831.1, ENST00000697838.1, ENST00000697840.1 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_006929.5(SKIC2):c.1212-50G>T AND not provided
- ClinVar Allele ID
- 1171548
- ClinVar RefSeq Alternation Syntax
- NM_006929.5:c.1212-50G>T
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2018-11-12
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001539972
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs