Description
Usher syndrome 1C (autosomal recessive, severe) [Source:HGNC Symbol;Acc:12597]
Gene Synonyms
AIE-75, AIE75, DFNB18, DFNB18A, NY-CO-37, NY-CO-38, PDZ-45, PDZ-73, PDZ-73/NY-CO-38, PDZ73, PDZD7C, harmonin, ush1cpst
Location
Chromosome 11: 17,515,442-17,565,963 reverse strand.
GRCh37:CM000673.1
About this gene
This gene has 10 transcripts (splice variants), 2 paralogues and is associated with 6 phenotypes.
Transcripts