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ARHGEF1 c.916G>C ;(p.G306R)
Variant ID: 19-42399460-G-C
NM_004706.3(
ARHGEF1
):c.916G>C;(p.G306R)
This variant was identified in 1 publication
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Novel compound heterozygous mutations of ALDH1A3 contribute to anophthalmia in a non-consanguineous Chinese family.
Genetics And Molecular Biology
Liu, Yunqiang Y; Lu, Yongjie Y; Liu, Shasha S; Liao, Shunyao S
Publication Date: 2017
Variant appearance in text: ARHGEF1: 916G>C
PubMed Link:
28590501
Variant Present in the following documents:
1415-4757-gmb-1678-4685-GMB-2016-0120-Suppl03.pdf
View BVdb publication page