Annotation Detail
Information
- Associated Genes
- PPARGC1A
- Associated Variants
-
PPARGC1A p.Gly482Ser (p.G482S)
(
ENST00000264867.7,
ENST00000613098.4 )
PPARGC1A p.Gly482Ser (p.G482S) ( ENST00000264867.7, ENST00000613098.4 ) - Associated Disease
- PPARGC1A-related disorder
- Source Database
- ClinVar
- Description
- NM_013261.5(PPARGC1A):c.1444G>A (p.Gly482Ser) AND PPARGC1A-related disorder
- ClinVar Allele ID
- 3200912
- ClinVar RefSeq Alternation Syntax
- NM_001330753.2:c.1063G>A
- ClinVar RefSeq Alternation Syntax
- NM_001354826.2:c.1063G>A
- ClinVar RefSeq Alternation Syntax
- NR_148984.2:n.1565G>A
- ClinVar RefSeq Alternation Syntax
- NR_148981.2:n.2047G>A
- ClinVar RefSeq Alternation Syntax
- NR_148985.2:n.2185G>A
- ClinVar RefSeq Alternation Syntax
- NR_148983.2:n.2273G>A
- ClinVar RefSeq Alternation Syntax
- NM_001354827.2:c.1459G>A
- ClinVar RefSeq Alternation Syntax
- NR_148982.2:n.2120G>A
- ClinVar RefSeq Alternation Syntax
- NR_148987.2:n.2272G>A
- ClinVar RefSeq Alternation Syntax
- NM_001330752.2:c.1408G>A
- ClinVar RefSeq Alternation Syntax
- NR_148986.2:n.2190G>A
- ClinVar RefSeq Alternation Syntax
- NM_001330751.2:c.1459G>A
- ClinVar RefSeq Alternation Syntax
- NM_001354825.2:c.1459G>A
- ClinVar RefSeq Alternation Syntax
- NM_013261.5:c.1444G>A
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2019-10-17
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003984576
- ClinVar Disease
- PPARGC1A-related disorder
- Observed Origin Sample
- germline
Drugs