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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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