Database of Pathogenic Variants
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Gene Detail
Gene Symbol
COL4A1
Gene:1282
HGNC:2202
Gene Name
collagen type IV alpha 1 chain
Chromosome
13
Cytogenetic Band
q34
RefSeq Accession
NM_001303110
Associated Diseases
Associated Variants
NM_001845:c.3104G>T
NM_001845.5:c.4887C>A
NM_001845.5:c.4843G>A
NM_001845.5:c.3995G>A
NM_001845.5:c.3976G>A
NM_001845.5:c.3245G>A
NM_001845.5:c.3122G>A
NM_001845.5:c.2689G>A
NM_001845.5:c.2608G>A
NM_001845.5:c.1990+1G>A
NM_001845.5:c.1963G>A
NM_001845.5:c.1835G>A
NM_001845.5:c.1382-1G>C
NM_001845.5:c.2931dupT
NM_001845.5:c.2842G>A