Annotation Detail
Information
- Associated Genes
- PNPLA6
- Associated Variants
-
PNPLA6 c.2665-19A>C
(
ENST00000221249.10,
ENST00000414982.7,
ENST00000450331.7,
ENST00000545201.6,
ENST00000600737.6 )
PNPLA6 c.2665-19A>C ( ENST00000221249.10, ENST00000414982.7, ENST00000450331.7, ENST00000545201.6, ENST00000600737.6 ) - Associated Disease
- Trichomegaly-retina pigmentary degeneration-dwarfism syndrome
- Source Database
- ClinVar
- Description
- NM_001166114.2(PNPLA6):c.2635-19A>C AND Trichomegaly-retina pigmentary degeneration-dwarfism syndrome
- ClinVar Allele ID
- 379673
- ClinVar RefSeq Alternation Syntax
- NM_001166111.2:c.2665-19A>C
- ClinVar RefSeq Alternation Syntax
- NM_001166112.2:c.2440-19A>C
- ClinVar RefSeq Alternation Syntax
- NM_001166114.2:c.2635-19A>C
- ClinVar RefSeq Alternation Syntax
- NM_001166113.1:c.2521-19A>C
- ClinVar RefSeq Alternation Syntax
- NM_006702.5:c.2521-19A>C
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2021-10-25
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001789346
- ClinVar Disease
- Trichomegaly-retina pigmentary degeneration-dwarfism syndrome
- Observed Origin Sample
- germline
Drugs