Database of Pathogenic Variants

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Disease Detail

Disease Name

Deafness, autosomal recessive, 12
OMIM:601386
MedGen:C1832394

Associated Genes and Variants

CDH23

NM_001171931:c.2407G>A
NM_022124.5:c.4135C>T
NM_022124.5:c.4244G>T
NM_022124.5:c.4328C>G
NM_022124.5:c.4877A>C
NM_022124.5:c.5131G>A
NM_022124.5:c.5627G>A
NM_022124.5:c.5722G>A
NM_022124.5:c.6389C>T
NM_022124.5:c.8005A>G
NM_022124.5:c.8734G>A

This database is funded by the Japan Agency for Medical Research and Development (AMED).