Tabel 2 The results of DNA sequencing, c.1799C > T mutation in the RELN gene was present in the proband and his mother
RELN (NM_005045) | |
Chromosomal location of the gene | chr7:103292201 |
Nucleotide variation | c.1799C > T |
Amino acid change | p.Ser600Phe |
Exon/intron | Exon15 |
Variation type | Heterozygote |
Father | Not found |
Mother | Heterozygote |
Frequency of variation | |
ExAC | 0.011 |
ESP6500 | 0.011 |
1000 Genomes | 0.006 |
1000 Genomes (Han Chinese in Beijing) | 0.0 |
1000 Genomes (Southern Han Chinese) | 0.0 |
Kangso Health | 0.001 |