SI c.4505A>C ;(p.Y1502S)

Variant ID: 3-164716363-T-G

NM_001041.3(SI):c.4505A>C;(p.Y1502S)

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:

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: SI: 4505A>C
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: SI: 4505A>C
PubMed Link: 34133440
Variant Present in the following documents:
  • Main text
  • pone.0252786.pdf
View BVdb publication page