AVP c.343G>T ;(p.E115*)

Variant ID: 20-3063428-C-A

NM_000490.4(AVP):c.343G>T;(p.E115*)

This variant was identified in 1 publication

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

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: E115X
PubMed Link: 28008190
Variant Present in the following documents:
  • Main text
  • 2186-3326-78-0349.pdf
View BVdb publication page