Annotation Detail
Information
- Associated Genes
- LEP
- Associated Variants
-
LEP p.Asn103Lys (p.N103K)
(
ENST00000308868.5 )
LEP p.Asn103Lys (p.N103K) ( ENST00000308868.5 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_000230.3(LEP):c.309C>A (p.Asn103Lys) AND not provided
- ClinVar Allele ID
- 2904996
- ClinVar RefSeq Alternation Syntax
- NM_000230.3:c.309C>A
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2023-08-19
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003555370
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs