Database of Pathogenic Variants
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Gene Detail
Gene Symbol
COL11A1
Gene:1301
HGNC:2186
Gene Name
collagen type XI alpha 1 chain
Chromosome
1
Cytogenetic Band
p21.1
RefSeq Accession
NM_080630
Associated Diseases
Stickler syndrome 1
Associated Variants
NM_001854.3:c.3168+5G>A