Annotation Detail
Information
- Associated Genes
- CAST PCSK1 LOC101929710
- Associated Variants
-
PCSK1 p.Gln665Glu (p.Q665E)
(
ENST00000311106.8,
ENST00000508626.5 )
PCSK1 p.Gln665Glu (p.Q665E) ( ENST00000311106.8, ENST00000508626.5 ) - Associated Disease
- Obesity due to prohormone convertase I deficiency
- Source Database
- ClinVar
- Description
- NM_000439.5(PCSK1):c.1993C>G (p.Gln665Glu) AND Obesity due to prohormone convertase I deficiency
- ClinVar Allele ID
- 298408
- ClinVar RefSeq Alternation Syntax
- NM_001177875.2:c.1852C>G
- ClinVar RefSeq Alternation Syntax
- NM_000439.5:c.1993C>G
- Clinical Significance Description
- Likely benign
- Clinical Significance Last Update
- 2016-06-14
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000342685
- ClinVar Disease
- Obesity due to prohormone convertase I deficiency
- Observed Origin Sample
- germline
Drugs