Annotation Detail
Information
- Associated Genes
- LZTR1 LOC130067016
- Associated Variants
-
LZTR1 p.Gln10ArgfsTer15 (p.Q10Rfs*15)
(
ENST00000646124.2,
ENST00000700578.1 )
LZTR1 p.Gln10ArgfsTer15 (p.Q10Rfs*15) ( ENST00000646124.2, ENST00000700578.1 ) - Associated Disease
- Noonan syndrome 10
- Source Database
- ClinVar
- Description
- NM_006767.4(LZTR1):c.27del (p.Gln10fs) AND Noonan syndrome 10
- ClinVar Allele ID
- 153652
- ClinVar RefSeq Alternation Syntax
- NM_006767.4:c.27del
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2023-02-14
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003225720
- ClinVar Disease
- Noonan syndrome 10
- Observed Origin Sample
- germline
Drugs