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Table 1 ABCA3 variants identified

From: A novel synonymous ABCA3 variant identified in a Chinese family with lethal neonatal respiratory failure

Gene Chromosome Nucleotide Change Protein Change Variant type In silico prediction Genotype Parent of origin
ABCA3 Chr16:2390573−2326806 NM_001089:(Chr16:2390573−2326806)X1 Exons 4–7 deletion Deletion Heterozygous Paternal
ABCA3 Chr16:2369582 NM_001089:
p.Lys291Lys Synonymous Cryptic splice site activation Heterozygous Maternal