Database of Pathogenic Variants
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Gene Detail
Gene Symbol
USH2A
Gene:7399
HGNC:12601
Gene Name
usherin
Chromosome
1
Cytogenetic Band
q41
RefSeq Accession
NM_007123
Associated Diseases
Usher syndrome 2A
Associated Variants
NM_206933:c.9079G>T
NM_007123:c.56_57delTG