Database of Pathogenic Variants

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Disease Detail

Disease Name

Deafness, autosomal dominant, 12
OMIM:601543
MedGen:C1832187

Associated Genes and Variants

TECTA

NM_005422.2:c.5668C>T
NM_005422.2:c.5699A>G
NM_005422.2:c.6049T>C

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