HP c.941A>G ;(p.E314G)

Variant ID: 16-72094509-A-G

NM_005143.3(HP):c.941A>G;(p.E314G)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Targeted exome sequencing identified a novel USH2A mutation in a Chinese usher syndrome family: a case report.

Bmc Ophthalmology
Xing, Dongjun D; Zhou, Huaiyu H; Yu, Rongguo R; Wang, Linni L; Hu, Liying L; Li, Zhiqing Z; Li, Xiaorong X
Publication Date: 2020-12-10

Variant appearance in text: HP: 941A>G
PubMed Link: 33302902
Variant Present in the following documents:
  • 12886_2020_1711_MOESM1_ESM.xlsx, sheet 1
  • 12886_2020_1711_MOESM1_ESM.xlsx, sheet 2
View BVdb publication page



Novel somatic single nucleotide variants within the RNA binding protein hnRNP A1 in multiple sclerosis patients.

F1000Research
Lee, Sangmin S; Levin, Michael M
Publication Date: 2014

Variant appearance in text: HP: 941A>G
PubMed Link: 25254102
Variant Present in the following documents:
  • f1000research-3-5669.pdf
View BVdb publication page