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DNAH11 c.6506C>T ;(p.S2169L)
Variant ID: 7-21745115-C-T
NM_001277115.1(
DNAH11
):c.6506C>T;(p.S2169L)
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:
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: 6506C>T
PubMed Link:
34405951
Variant Present in the following documents:
View BVdb publication page