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AVP c.268A>T ;(p.K90*)
Variant ID: 20-3063677-T-A
NM_000490.4(
AVP
):c.268A>T;(p.K90*)
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: 268A>T; Lys90Ter
PubMed Link:
31316622
Variant Present in the following documents:
Main text
View BVdb publication page
Half a Century Tales of Familial Hypercholesterolemia (FH) in Japan.
Journal Of Atherosclerosis And Thrombosis
Mabuchi, Hiroshi H
Publication Date: 2017-03-01
Variant appearance in text: ADH: K90X
PubMed Link:
28179607
Variant Present in the following documents:
Main text
jat-24-189.pdf
View BVdb publication page