Annotation Detail
Information
- Associated Genes
- LMX1B
- Associated Variants
-
LMX1B p.Cys118Phe (p.C118F)
(
ENST00000355497.10,
ENST00000373474.9,
ENST00000526117.6 )
LMX1B p.Cys118Phe (p.C118F) ( ENST00000355497.10, ENST00000373474.9, ENST00000526117.6 ) - Associated Disease
- nail-patella syndrome
- Source Database
- ClinVar
- Description
- NM_001174147.2(LMX1B):c.353G>T (p.Cys118Phe) AND Nail-patella syndrome
- ClinVar Allele ID
- 22042
- ClinVar RefSeq Alternation Syntax
- NM_001174147.2:c.353G>T
- ClinVar RefSeq Alternation Syntax
- NM_001174146.2:c.353G>T
- ClinVar RefSeq Alternation Syntax
- NM_002316.4:c.353G>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 1998-07-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000007418
- ClinVar Disease
- Nail-patella syndrome
- Observed Origin Sample
- germline
- Pubmed
- 9618165
Drugs