Database of Pathogenic Variants
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Gene Detail
Gene Symbol
COL11A2
Gene:1302
HGNC:2187
Gene Name
collagen type XI alpha 2 chain
Chromosome
6
Cytogenetic Band
p21.32
RefSeq Accession
NM_001163771
Associated Diseases
Partial deafness
Associated Variants
NM_080680.2:c.688G>T