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. 2020 Jan 10;6(1):e392. doi: 10.1212/NXG.0000000000000392

Figure 2. COL4A1 NM_001845.5:c.3832G>A p.Gly1278Ser variant segregates with disease.

Figure 2

Both parents and 5 of the 6 unaffected siblings are heterozygous for the variant, while both affected cases are homozygous. One unaffected sibling does not carry this variant. Number of “red dots” indicates the number of COL4A1 c.3832G>A alleles for each family member.