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AVP c.52_54del ;(p.S18del)
Variant ID: 20-3065266-CGGA-C
NM_000490.4(
AVP
):c.52_54del;(p.S18del)
This variant was identified in 2 publications
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: S18del
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: S18del
PubMed Link:
28008190
Variant Present in the following documents:
Main text
2186-3326-78-0349.pdf
View BVdb publication page