KMT2D c.1787C>T ;(p.A596V)

Variant ID: 12-49445679-G-A

NM_003482.3(KMT2D):c.1787C>T;(p.A596V)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Exome sequencing identifies a novel mutation of the GDI1 gene in a Chinese non-syndromic X-linked intellectual disability family.

Genetics And Molecular Biology
Duan, Yongheng Y; Lin, Sheng S; Xie, Lichun L; Zheng, Kaifeng K; Chen, Shiguo S; Song, Hui H; Zeng, Xuchun X; Gu, Xueying X; Wang, Heyun H; Zhang, Linghua L; Shao, Hao H; Hong, Wenxu W; Zhang, Lijie L; Duan, Shan S
Publication Date: 2017

Variant appearance in text: KMT2D: 1787C>T
PubMed Link: 28863211
Variant Present in the following documents:
  • Main text
  • 1415-4757-gmb-1678-4685-GMB-2016-0249.pdf
View BVdb publication page