Annotation Detail
Information
- Associated Genes
- GJB1
- Associated Variants
-
GJB1 p.Arg219His (p.R219H)
(
ENST00000361726.7,
ENST00000374029.2,
ENST00000447581.2,
ENST00000645009.2,
ENST00000646835.1,
ENST00000647424.1,
ENST00000674549.1,
ENST00000674844.1,
ENST00000675209.1,
ENST00000675368.1,
ENST00000675609.1 )
GJB1 p.Arg219His (p.R219H) ( 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 Neuropathy X
- Source Database
- ClinVar
- Description
- NM_000166.6(GJB1):c.656G>A (p.Arg219His) AND Charcot-Marie-Tooth Neuropathy X
- ClinVar Allele ID
- 574885
- ClinVar RefSeq Alternation Syntax
- NM_000166.6:c.656G>A
- ClinVar RefSeq Alternation Syntax
- NM_001097642.3:c.656G>A
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2021-09-02
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000685849
- ClinVar Disease
- Charcot-Marie-Tooth Neuropathy X
- Observed Origin Sample
- germline
Drugs