Table 7 HaploReg v4.1 bioinformatics database search of NRG1 p.V133 L
From: NRG1 variant effects in patients with Hirschsprung disease
Variant | Histone H3K4me1 (Enhancer) | Histone H3K4me3 (Promoter) | Histone H3K9ac (Promoter) | Motifs Change |
|---|---|---|---|---|
c.397G > C (p.V133 L) | Gastric | Duodenum Smooth Muscle, Colon Smooth Muscle, Stomach Smooth Muscle, Fetal Stomach, Fetal Intestine Small, Fetal Intestine Large | Stomach Mucosa | AP-4_2, BDP1_disc3, Egr-1_known1, Egr-1_known4, HEN1_2 |