AVP c.313T>C ;(p.C105R)

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