Annotation Detail
Information
- Associated Genes
- LZTR1
- Associated Variants
-
LZTR1 p.Arg466Gln (p.R466Q)
(
ENST00000646124.2,
ENST00000700578.1 )
LZTR1 p.Arg466Gln (p.R466Q) ( ENST00000646124.2, ENST00000700578.1 ) - Associated Disease
- Noonan syndrome and Noonan-related syndrome
- Source Database
- ClinVar
- Description
- NM_006767.4(LZTR1):c.1397G>A (p.Arg466Gln) AND Noonan syndrome and Noonan-related syndrome
- ClinVar Allele ID
- 106803
- ClinVar RefSeq Alternation Syntax
- NM_006767.4:c.1397G>A
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2021-03-31
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001813376
- ClinVar Disease
- Noonan syndrome and Noonan-related syndrome
- Observed Origin Sample
- germline
Drugs