AVP c.5_16del ;(p.PDTM2_?5)

Variant ID: 20-3065304-AGCATGGTGTCAG-A

NM_000490.4(AVP):c.5_16del;(p.PDTM2_?5)

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:

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: M1_T4del
PubMed Link: 31316622
Variant Present in the following documents:
  • Main text
View BVdb publication page