View individual #00000133

VIP -
Remarks These individuals have profound X-linked hearing loss
Reference -
Gender M
Consanguinity ?
Geographic origin Canada
Ethnic origin Newfoundland, Caucasian
Age of death -
Data_av -
Treatment -
Panel size 6
Diseases DFNX4
Owner name Terry-Lynn Young


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

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Technique     

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Variants found     

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



Variants

1 entry on 1 page. Showing entry 1.
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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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