Bibliome.ai browser hg19
Search
About
Stats
FAQ
DNAH11 c.4922C>G ;(p.S1641*)
Variant ID: 7-21678661-C-G
NM_001277115.1(
DNAH11
):c.4922C>G;(p.S1641*)
This variant was identified in 4 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Identification of compound heterozygous DNAH11 variants in a Han-Chinese family with primary ciliary dyskinesia.
Journal Of Cellular And Molecular Medicine
Xiong, Ying Y; Xia, Hong H; Yuan, Lamei L; Deng, Sheng S; Ding, Zerui Z; Deng, Hao H
Publication Date: 2021-09
Variant appearance in text: DNAH11: 4922C>G
PubMed Link:
34405951
Variant Present in the following documents:
View BVdb publication page
DNAH11 compound heterozygous variants cause heterotaxy and congenital heart disease.
Plos One
Xia, Hong H; Huang, Xiangjun X; Deng, Sheng S; Xu, Hongbo H; Yang, Yan Y; Liu, Xin X; Yuan, Lamei L; Deng, Hao H
Publication Date: 2021
Variant appearance in text: DNAH11: 4922C>G; Ser1641*
PubMed Link:
34133440
Variant Present in the following documents:
Main text
pone.0252786.pdf
View BVdb publication page
A novel DNAH11 variant segregating in a sibship with heterotaxy and implications for genetic counseling.
Molecular Genetics & Genomic Medicine
Namavarian, Amirpouyan A; Eid, Anas A; Goh, Elaine Suk-Ying ES; Thakur, Varsha V
Publication Date: 2020-09
Variant appearance in text: DNAH11: 4922C>G; Ser1641*
PubMed Link:
32633470
Variant Present in the following documents:
Main text
MGG3-8-e1358.pdf
View BVdb publication page
Association of DNAH11 gene polymorphisms with asthenozoospermia in Northeast Chinese patients.
Bioscience Reports
Zhu, Dongliang D; Zhang, Hongguo H; Wang, Ruixue R; Liu, Xiaojun X; Jiang, Yuting Y; Feng, Tao T; Liu, Ruizhi R; Zhang, Guirong G
Publication Date: 2019-06-28
Variant appearance in text: DNAH11: 4922C>G
PubMed Link:
31160482
Variant Present in the following documents:
Main text
bsr-39-bsr20181450.pdf
View BVdb publication page