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AVP c.133G>T ;(p.G45C)
Variant ID: 20-3063812-C-A
NM_000490.4(
AVP
):c.133G>T;(p.G45C)
This variant was identified in 3 publications
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: G45C
PubMed Link:
28008190
Variant Present in the following documents:
Main text
2186-3326-78-0349.pdf
View BVdb publication page
iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.
Scientific Reports
Wang, Meng M; Wei, Liping L
Publication Date: 2016-08-16
Variant appearance in text: AVP: G45C
PubMed Link:
27527004
Variant Present in the following documents:
srep31321-s3.xls, sheet 1
View BVdb publication page
Diabetes insipidus: The other diabetes.
Indian Journal Of Endocrinology And Metabolism
Kalra, Sanjay S; Zargar, Abdul Hamid AH; Jain, Sunil M SM; Sethi, Bipin B; Chowdhury, Subhankar S; Singh, Awadhesh Kumar AK; Thomas, Nihal N; Unnikrishnan, A G AG; Thakkar, Piya Ballani PB; Malve, Harshad H
Publication Date: 2016
Variant appearance in text: AVP: G45C
PubMed Link:
26904464
Variant Present in the following documents:
IJEM-20-9.pdf
View BVdb publication page