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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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