Annotation Detail
Information
- Associated Genes
- LMX1B
- Associated Variants
-
LMX1B p.Gln82Ter (p.Q82*)
(
ENST00000355497.10,
ENST00000373474.9,
ENST00000526117.6 )
LMX1B p.Gln82Ter (p.Q82*) ( ENST00000355497.10, ENST00000373474.9, ENST00000526117.6 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_001174147.2(LMX1B):c.244C>T (p.Gln82Ter) AND not provided
- ClinVar Allele ID
- 22044
- ClinVar RefSeq Alternation Syntax
- NM_001174147.2:c.244C>T
- ClinVar RefSeq Alternation Syntax
- NM_001174146.2:c.244C>T
- ClinVar RefSeq Alternation Syntax
- NM_002316.4:c.244C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2023-11-04
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000760427
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs