Annotation Detail
Information
- Associated Genes
- MT-RNR1
- Associated Variants
-
GJB2 p.Leu79CysfsTer3 (p.L79Cfs*3)
(
ENST00000382848.5,
ENST00000382844.2 )
GJB2 p.Leu79CysfsTer3 (p.L79Cfs*3) ( ENST00000382844.2, ENST00000382848.5 ) - Associated Disease
- Hearing Loss, Mixed Conductive-Sensorineural
- Source Database
- DisGeNET
- Description
- Accordingly, we developed a method for the simultaneous detection of seven mutations (c.235delC of GJB2, c.439A>G, c.919-2A>G, c.1149+3A>G, c.1229C>T, c.2168A>G of SLC26A4, and m.1555A>G of the MT-RNR1 gene) using multiplex SNaPshot minisequencing to enable rapid diagnosis of hereditary hearing loss.
- Pubmed
- 23469187
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00190009310456212
- Year of publication
- 2013
Drugs