DISP3 c.-3-3121T>G

Variant ID: 1-11557926-T-G

NM_020780.1(DISP3):c.-3-3121T>G

This variant was identified in 2 publications

View GRCh38 version.




Publications:


A new autosomal recessive nonsyndromic hearing impairment locus DFNB96 on chromosome 1p36.31-p36.13.

Journal Of Human Genetics
Ansar, Muhammad M; Lee, Kwanghyuk K; Naqvi, Syed Kamran-Ul-Hassan SK; Andrade, Paula B PB; Basit, Sulman S; Santos-Cortez, Regie Lyn P RL; Ahmad, Wasim W; Leal, Suzanne M SM
Publication Date: 2011-12

Variant appearance in text: rs4846012
PubMed Link: 21937999
Variant Present in the following documents:
  • Main text
View BVdb publication page



The EPHA2 gene is associated with cataracts linked to chromosome 1p.

Molecular Vision
Shiels, Alan A; Bennett, Thomas M TM; Knopf, Harry L S HL; Maraini, Giovanni G; Li, Anren A; Jiao, Xiaodong X; Hejtmancik, J Fielding JF
Publication Date: 2008

Variant appearance in text: rs4846012
PubMed Link: 19005574
Variant Present in the following documents:
  • Main text
  • mv-v14-2042.pdf
View BVdb publication page