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DNAH11 c.1648del ;(p.R550Gfs*16)
Variant ID: 7-21621575-GA-G
NM_001277115.1(
DNAH11
):c.1648del;(p.R550Gfs*16)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
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: 1648del; Arg550Glyfs
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: 1648delA; Arg550GlyfsX16
PubMed Link:
32633470
Variant Present in the following documents:
Main text
MGG3-8-e1358.pdf
View BVdb publication page