View individual #00000133

Reference -
Remarks These individuals have profound X-linked hearing loss
Gender M
Consanguinity ?
Geographic origin Canada
Ethnic origin Newfoundland, Caucasian
Age of death -
VIP -
Data_av -
Treatment -
Panel size 6
Diseases DFNX-4
Owner name Terry-Lynn Young


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Genes screened     

Variants found     

Owner     
0000000124 DNA PCR;SEQ - SMPX 1 Terry-Lynn Young



Variants

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Type     
X Unknown g.21761901del c.99delC chr1_000001 - This mutation has been associated with X-linked hearing loss at the DFNX4 locus, in two Newfoundland families. - - Germline (inherited) yes - - - Terry-Lynn Young +/? 3 NM_014332.1:c.99del - - - r.(99del) p.(Arg34Glufs*47) - - - - - - - - - - - - - - - - - - - - - - -
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