AVP c.329G>A ;(p.C110Y)

Variant ID: 20-3063442-C-T

NM_000490.4(AVP):c.329G>A;(p.C110Y)

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: C110Y
PubMed Link: 31316622
Variant Present in the following documents:
  • Main text
View BVdb publication page



Central diabetes insipidus.

Nagoya Journal Of Medical Science
Arima, Hiroshi H; Azuma, Yoshinori Y; Morishita, Yoshiaki Y; Hagiwara, Daisuke D
Publication Date: 2016-12

Variant appearance in text: AVP: C110Y
PubMed Link: 28008190
Variant Present in the following documents:
  • Main text
  • 2186-3326-78-0349.pdf
View BVdb publication page