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DNAH11 c.490G>A ;(p.D164N)
Variant ID: 7-21584762-G-A
NM_001277115.1(
DNAH11
):c.490G>A;(p.D164N)
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Identification of Immune-Related Gene Signatures in Lung Adenocarcinoma and Lung Squamous Cell Carcinoma.
Frontiers In Immunology
Li, Na N; Wang, Jiahong J; Zhan, Xianquan X
Publication Date: 2021
Variant appearance in text: DNAH11: 490G>A; Asp164Asn
PubMed Link:
34887858
Variant Present in the following documents:
Table_3.xlsx, sheet 1
View BVdb publication page
Patient-derived cells from recurrent tumors that model the evolution of IDH-mutant glioma.
Neuro-Oncology Advances
Jones, Lindsey E LE; Hilz, Stephanie S; Grimmer, Matthew R MR; Mazor, Tali T; Najac, ChloƩ C; Mukherjee, Joydeep J; McKinney, Andrew A; Chow, Tracy T; Pieper, Russell O RO; Ronen, Sabrina M SM; Chang, Susan M SM; Phillips, Joanna J JJ; Costello, Joseph F JF
Publication Date: 2020
Variant appearance in text: DNAH11: D164N
PubMed Link:
32904945
Variant Present in the following documents:
vdaa088_suppl_supplementary_tables.xlsx, sheet 2
View BVdb publication page
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: 490G>A
PubMed Link:
29974678
Variant Present in the following documents:
MGG3-6-739-s002.xlsx, sheet 2
View BVdb publication page