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DNAH11 c.1296C>T ;(p.N432=)
Variant ID: 7-21609788-C-T
NM_001277115.1(
DNAH11
):c.1296C>T;(p.N432=)
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:
A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing.
Molecular Genetics & Genomic Medicine
Yang, Junli J; Wang, Qiong Q; Zhuo, Qingcui Q; Tian, Huiling H; Li, Wen W; Luo, Fang F; Zhang, Jinghui J; Bi, Dan D; Peng, Jing J; Zhou, Dong D; Xin, Huawei H
Publication Date: 2018-09
Variant appearance in text: DNAH11: 1296C>T
PubMed Link:
29974678
Variant Present in the following documents:
MGG3-6-739-s002.xlsx, sheet 4
View BVdb publication page