Bibliome.ai browser hg19
Search
About
Stats
FAQ
DNAH11 c.9818A>C ;(p.E3273A)
Variant ID: 7-21827095-A-C
NM_001277115.1(
DNAH11
):c.9818A>C;(p.E3273A)
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:
Exome sequencing in fetuses with short long bones detected by ultrasonography: A retrospective cohort study.
Frontiers In Genetics
Huang, Yanlin Y; Liu, Chang C; Ding, Hongke H; Wang, Yunan Y; Yu, Lihua L; Guo, Fangfang F; Li, Fake F; Shi, Xiaomei X; Zhang, Yan Y; Yin, Aihua A
Publication Date: 2023
Variant appearance in text: DNAH11: 9818A>C; Glu3273Ala
PubMed Link:
36923788
Variant Present in the following documents:
Table3.xlsx, sheet 1
View BVdb publication page
Sequencing of a Chinese tetralogy of Fallot cohort reveals clustering mutations in myogenic heart progenitors.
Jci Insight
Tang, Clara Sze Man CSM; Mononen, Mimmi M; Lam, Wai-Yee WY; Jin, Sheng Chih SC; Zhuang, Xuehan X; Garcia-Barcelo, Maria-Mercè MM; Lin, Qiongfen Q; Yang, Yujia Y; Sahara, Makoto M; Eroglu, Elif E; Chien, Kenneth R KR; Hong, Haifa H; Tam, Paul Kwong Hang PKH; Gruber, Peter J PJ
Publication Date: 2022-01-25
Variant appearance in text: DNAH11: 9818A>C; Glu3273Ala
PubMed Link:
34905512
Variant Present in the following documents:
jciinsight-7-152198-s012.xlsx, sheet 8
View BVdb publication page