Annotation Detail
Information
- Associated Genes
- CAST PCSK1 LOC101929710
- Associated Variants
-
PCSK1 p.Ser690Thr (p.S690T)
(
ENST00000311106.8,
ENST00000508626.5 )
PCSK1 p.Ser690Thr (p.S690T) ( ENST00000311106.8, ENST00000508626.5 ) - Associated Disease
- Obesity due to prohormone convertase I deficiency
- Source Database
- ClinVar
- Description
- NM_000439.5(PCSK1):c.2069G>C (p.Ser690Thr) AND Obesity due to prohormone convertase I deficiency
- ClinVar Allele ID
- 305127
- ClinVar RefSeq Alternation Syntax
- NM_000439.5:c.2069G>C
- ClinVar RefSeq Alternation Syntax
- NM_001177875.2:c.1928G>C
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2018-01-12
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000404859
- ClinVar Disease
- Obesity due to prohormone convertase I deficiency
- Observed Origin Sample
- germline
Drugs