Database of Pathogenic Variants
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Gene Detail
Gene Symbol
COL2A1
Gene:1280
HGNC:2200
Gene Name
collagen type II alpha 1 chain
Chromosome
12
Cytogenetic Band
q13.11
RefSeq Accession
NM_001844
Associated Diseases
Kniest dysplasia
Associated Variants
NM_001844.4:c.1024-2A>C