Skip to main content

Table 5 Rare variants in SHROOM3

From: SHROOM3 is a novel candidate for heterotaxy identified by whole exome sequencing

Patient ID Amino acid Predicted pathogenicity Allele hg19 coordinates
LAT0820 p.E1775K - - - Homozygous chr4: 77,680,822
LAT0844 p.P173H + + + Heterozygous chr4:77,652,019
LAT0982 p.G1864D + + + Heterozygous chr4:77,692,019
LAT0990 p.D537N - - - Homozygous chr4: 77,660,935
LAT1180 p.G60V + + + Homozygous chr4:77,476,772
  1. Predicted pathogenicity results are presented for PolyPhen, SIFT, and PANTHER analysis. +, probably damaging or damaging (deleterious); -, benign.