Database of Pathogenic Variants

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Disease Detail

Disease Name

OMIM:607595
MedGen:C4013035

Associated Genes and Variants

COL4A1

NM_001845.5:c.1382-1G>C
NM_001845.5:c.1835G>A
NM_001845.5:c.1963G>A
NM_001845.5:c.1990+1G>A
NM_001845.5:c.2608G>A
NM_001845.5:c.2689G>A
NM_001845.5:c.2842G>A
NM_001845.5:c.2931dupT
NM_001845.5:c.3122G>A
NM_001845.5:c.3245G>A
NM_001845.5:c.3976G>A
NM_001845.5:c.3995G>A
NM_001845.5:c.4843G>A
NM_001845.5:c.4887C>A
NM_001845:c.3104G>T

This database is funded by the Japan Agency for Medical Research and Development (AMED).