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AVP c.313T>C ;(p.C105R)
Variant ID: 20-3063632-A-G
NM_000490.4(
AVP
):c.313T>C;(p.C105R)
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:
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: C105R
PubMed Link:
28008190
Variant Present in the following documents:
Main text
2186-3326-78-0349.pdf
View BVdb publication page
GESPA: classifying nsSNPs to predict disease association.
Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25
Variant appearance in text: AVP: C105R
PubMed Link:
26206375
Variant Present in the following documents:
12859_2015_673_MOESM1_ESM.xls, sheet 1
View BVdb publication page