DNAH11 c.2772G>A ;(p.M924I)

Variant ID: 7-21639509-G-A

NM_001277115.1(DNAH11):c.2772G>A;(p.M924I)

This variant was identified in 4 publications

View GRCh38 version.




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: 2772G>A; Met924Ile
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: 2772G>A; M924I
PubMed Link: 32633470
Variant Present in the following documents:
  • Main text
  • MGG3-8-e1358.pdf
View BVdb publication page



Identification of recurrent FHL2-GLI2 oncogenic fusion in sclerosing stromal tumors of the ovary.

Nature Communications
Kim, Sarah H SH; Da Cruz Paula, Arnaud A; Basili, Thais T; Dopeso, Higinio H; Bi, Rui R; Pareja, Fresia F; da Silva, Edaise M EM; Gularte-Mérida, Rodrigo R; Sun, Zhen Z; Fujisawa, Sho S; Smith, Caitlin G CG; Ferrando, Lorenzo L; Martins Sebastião, Ana Paula AP; Bykov, Yonina Y; Li, Anqi A; Silveira, Catarina C; Ashley, Charles W CW; Stylianou, Anthe A; Selenica, Pier P; Samore, Wesley R WR; Jungbluth, Achim A AA; Zamarin, Dmitriy D; Abu-Rustum, Nadeem R NR; Helin, Kristian K; Soslow, Robert A RA; Reis-Filho, Jorge S JS; Oliva, Esther E; Weigelt, Britta B
Publication Date: 2020-01-02

Variant appearance in text: DNAH11: M924I
PubMed Link: 31896750
Variant Present in the following documents:
  • 41467_2019_13806_MOESM1_ESM.pdf
View BVdb publication page