AVP c.286G>T ;(p.G96C)

Variant ID: 20-3063659-C-A

NM_000490.4(AVP):c.286G>T;(p.G96C)

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: G96C
PubMed Link: 28008190
Variant Present in the following documents:
  • Main text
  • 2186-3326-78-0349.pdf
View BVdb publication page



GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: AVP: G96C
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 1
View BVdb publication page



Autosomal dominant familial neurohypophyseal diabetes insipidus caused by a mutation in the arginine-vasopressin II gene in four generations of a Korean family.

Annals Of Pediatric Endocrinology & Metabolism
Kim, Myo-Jing MJ; Kim, Young-Eun YE; Ki, Chang-Seok CS; Yoo, Jae-Ho JH
Publication Date: 2014-12

Variant appearance in text: AVP: 286G>T
PubMed Link: 25654069
Variant Present in the following documents:
  • Main text
  • apem-19-220.pdf
View BVdb publication page