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COG7 c.2146+191C>T
Variant ID: 16-23403510-G-A
NM_153603.3(
COG7
):c.2146+191C>T
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Heritability Enrichment of Immunoglobulin G N-Glycosylation in Specific Tissues.
Frontiers In Immunology
Li, Xingang X; Wang, Hao H; Zhu, Yahong Y; Cao, Weijie W; Song, Manshu M; Wang, Youxin Y; Hou, Haifeng H; Lang, Minglin M; Guo, Xiuhua X; Tan, Xuerui X; Han, Jingdong J JJ; Wang, Wei W
Publication Date: 2021
Variant appearance in text: rs250583
PubMed Link:
34804021
Variant Present in the following documents:
Main text
fimmu-12-741705.pdf
View BVdb publication page
Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.
Frontiers In Genetics
Feng, Wei-Xing WX; Zhuo, Xiu-Wei XW; Liu, Zhi-Mei ZM; Li, Jiu-Wei JW; Zhang, Wei-Hua WH; Wu, Yun Y; Han, Tong-Li TL; Fang, Fang F
Publication Date: 2021
Variant appearance in text: COG7: 2146+191C>T; rs250583
PubMed Link:
34054912
Variant Present in the following documents:
Table_2.xlsx, sheet 1
View BVdb publication page
Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.
Frontiers In Physiology
Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P
Publication Date: 2018
Variant appearance in text: COG7: 2146+191C>T; rs250583
PubMed Link:
30319441
Variant Present in the following documents:
Table_5.xlsx, sheet 1
View BVdb publication page