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Table 1 LAMB2 and NPHP1 mutations

From: Simultaneous mutations of LAMB2 and NPHP1genes in a Chinese girl with isolated congenital nephrotic syndrome: a case report

Gene region Nucleotide change Reference transcript Amino acid change Chromosomal location Hom
/Het*
LAMB2 Exon9 c.1176_1178delTCT NM_002292.3 p. Phe392del Chr3:49167708 Het
LAMB2 Intron29 c.4923 + 2 T > G - Chr3:49159375 Het
NPHP1 Exon 8 c.922 T > C NM_000272.3 p.Ser308Pro Chr2:110922114 Het
NPHP1 Exon 17 c.1757G > A p.Arg586Gln Chr2:110889309 Het
  1. *Hom: homozygote, Het: heterozygote