AVP c.133G>T ;(p.G45C)

Variant ID: 20-3063812-C-A

NM_000490.4(AVP):c.133G>T;(p.G45C)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


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: G45C
PubMed Link: 28008190
Variant Present in the following documents:
  • Main text
  • 2186-3326-78-0349.pdf
View BVdb publication page



iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports
Wang, Meng M; Wei, Liping L
Publication Date: 2016-08-16

Variant appearance in text: AVP: G45C
PubMed Link: 27527004
Variant Present in the following documents:
  • srep31321-s3.xls, sheet 1
View BVdb publication page



Diabetes insipidus: The other diabetes.

Indian Journal Of Endocrinology And Metabolism
Kalra, Sanjay S; Zargar, Abdul Hamid AH; Jain, Sunil M SM; Sethi, Bipin B; Chowdhury, Subhankar S; Singh, Awadhesh Kumar AK; Thomas, Nihal N; Unnikrishnan, A G AG; Thakkar, Piya Ballani PB; Malve, Harshad H
Publication Date: 2016

Variant appearance in text: AVP: G45C
PubMed Link: 26904464
Variant Present in the following documents:
  • IJEM-20-9.pdf
View BVdb publication page