Database of Pathogenic Variants
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Gene Detail
Gene Symbol
ASXL3
Gene:80816
HGNC:29357
Gene Name
ASXL transcriptional regulator 3
Chromosome
18
Cytogenetic Band
q12.1
RefSeq Accession
NM_030632
Associated Diseases
Bainbridge-Ropers syndrome
Associated Variants
NM_030632.2:c.3039+1G>A
NM_030632.3:c.1875_1878dup