ANO5 c.706G>C ;(p.G236R)

Variant ID: 11-22257766-G-C

NM_213599.2(ANO5):c.706G>C;(p.G236R)

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:

PRIORI-T: A tool for rare disease gene prioritization using MEDLINE.

Plos One
Rao, Aditya A; Joseph, Thomas T; Saipradeep, Vangala G VG; Kotte, Sujatha S; Sivadasan, Naveen N; Srinivasan, Rajgopal R
Publication Date: 2020

Variant appearance in text: ANO5: Gly236Arg
PubMed Link: 32315351
Variant Present in the following documents:
  • pone.0231728.s001.pdf
View BVdb publication page


Phenotype-driven gene prioritization for rare diseases using graph convolution on heterogeneous networks.

Bmc Medical Genomics
Rao, Aditya A; Vg, Saipradeep S; Joseph, Thomas T; Kotte, Sujatha S; Sivadasan, Naveen N; Srinivasan, Rajgopal R
Publication Date: 2018-07-06

Variant appearance in text: ANO5: Gly236Arg
PubMed Link: 29980210
Variant Present in the following documents:
  • 12920_2018_372_MOESM1_ESM.pdf
View BVdb publication page