Annotation Detail
Information
- Associated Genes
- GJB1
- Associated Variants
-
GJB1 p.Glu102Ter (p.E102*)
(
ENST00000361726.7,
ENST00000374029.2,
ENST00000447581.2,
ENST00000645009.2,
ENST00000646835.1,
ENST00000647424.1,
ENST00000674549.1,
ENST00000674844.1,
ENST00000675209.1,
ENST00000675368.1,
ENST00000675609.1 )
GJB1 p.Glu102Ter (p.E102*) ( ENST00000361726.7, ENST00000374029.2, ENST00000447581.2, ENST00000645009.2, ENST00000646835.1, ENST00000647424.1, ENST00000674549.1, ENST00000674844.1, ENST00000675209.1, ENST00000675368.1, ENST00000675609.1 ) - Associated Disease
- Charcot-Marie-Tooth disease X-linked dominant 1
- Source Database
- ClinVar
- Description
- NM_000166.6(GJB1):c.304G>T (p.Glu102Ter) AND Charcot-Marie-Tooth disease X-linked dominant 1
- ClinVar Allele ID
- 625575
- ClinVar RefSeq Alternation Syntax
- NM_000166.6:c.304G>T
- ClinVar RefSeq Alternation Syntax
- NM_001097642.3:c.304G>T
- Clinical Significance Description
- Conflicting interpretations of pathogenicity
- Clinical Significance Last Update
- 2016-01-06
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000011188
- ClinVar Disease
- Charcot-Marie-Tooth disease X-linked dominant 1
- Observed Origin Sample
- germline
- Pubmed
- 10487913
Drugs