AVP c.268A>T ;(p.K90*)

Variant ID: 20-3063677-T-A

NM_000490.4(AVP):c.268A>T;(p.K90*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Autosomal dominant familial neurohypophyseal diabetes insipidus caused by a novel nonsense mutation in AVP-NPII gene.

Experimental And Therapeutic Medicine
Yang, Hongbo H; Yan, Kemin K; Wang, Linjie L; Gong, Fengying F; Jin, Zimeng Z; Zhu, Huijuan H
Publication Date: 2019-08

Variant appearance in text: AVP: 268A>T; Lys90Ter
PubMed Link: 31316622
Variant Present in the following documents:
  • Main text
View BVdb publication page



Half a Century Tales of Familial Hypercholesterolemia (FH) in Japan.

Journal Of Atherosclerosis And Thrombosis
Mabuchi, Hiroshi H
Publication Date: 2017-03-01

Variant appearance in text: ADH: K90X
PubMed Link: 28179607
Variant Present in the following documents:
  • Main text
  • jat-24-189.pdf
View BVdb publication page