Annotation Detail
Information
- Associated Genes
- EPM2A EPM2A-DT LOC129997381
- Associated Variants
-
EPM2A p.Gly79Arg (p.G79R)
(
ENST00000367519.9,
ENST00000435470.2,
ENST00000611340.5,
ENST00000638262.1,
ENST00000639423.1,
ENST00000640980.1 )
EPM2A p.Gly79Arg (p.G79R) ( ENST00000367519.9, ENST00000435470.2, ENST00000611340.5, ENST00000638262.1, ENST00000639423.1, ENST00000640980.1 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_005670.4(EPM2A):c.235G>C (p.Gly79Arg) AND not provided
- ClinVar Allele ID
- 190490
- ClinVar RefSeq Alternation Syntax
- NM_001368129.2:c.-389G>C
- ClinVar RefSeq Alternation Syntax
- NM_001018041.2:c.235G>C
- ClinVar RefSeq Alternation Syntax
- NM_001368131.1:c.-133G>C
- ClinVar RefSeq Alternation Syntax
- NM_001360071.2:c.-435G>C
- ClinVar RefSeq Alternation Syntax
- NM_001360064.2:c.-114+644G>C
- ClinVar RefSeq Alternation Syntax
- NM_001368130.1:c.235G>C
- ClinVar RefSeq Alternation Syntax
- NM_005670.4:c.235G>C
- ClinVar RefSeq Alternation Syntax
- NM_001360057.2:c.235G>C
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2023-04-21
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000724166
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs