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CLEC4M c.1049+150T>C
Variant ID: 19-7832664-T-C
NM_014257.4(
CLEC4M
):c.1049+150T>C
This variant was identified in 5 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Human Genome Polymorphisms and Computational Intelligence Approach Revealed a Complex Genomic Signature for COVID-19 Severity in Brazilian Patients.
Viruses
Pastor, André Filipe AF; Docena, Cássia C; Rezende, Antônio Mauro AM; Oliveira, Flávio Rosendo da Silva FRDS; Sena, Marília de Albuquerque MA; Morais, Clarice Neuenschwander Lins de CNL; Bresani-Salvi, Cristiane Campello CC; Vasconcelos, Luydson Richardson Silva LRS; Valença, Kennya Danielle Campelo KDC; Mariz, Carolline de Araújo CA; Brito, Carlos C; Fonseca, Cláudio Duarte CD; Braga, Cynthia C; Reis, Christian Robson de Souza CRS; Marques, Ernesto Torres de Azevedo ETA; Acioli-Santos, Bartolomeu B
Publication Date: 2023-02-28
Variant appearance in text: rs2161525
PubMed Link:
36992353
Variant Present in the following documents:
Main text
viruses-15-00645.pdf
View BVdb publication page
A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.
Human Genome Variation
Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-09-08
Variant appearance in text: rs2161525
PubMed Link:
36075891
Variant Present in the following documents:
41439_2022_208_MOESM5_ESM.xlsx, sheet 2
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: CLEC4M: 1049+150T>C; rs2161525
PubMed Link:
30319441
Variant Present in the following documents:
Table_6.xlsx, sheet 1
View BVdb publication page
Genetic variation in the C-type lectin receptor CLEC4M in type 1 von Willebrand Disease patients.
Plos One
Manderstedt, Eric E; Lind-Halldén, Christina C; Lethagen, Stefan S; Halldén, Christer C
Publication Date: 2018
Variant appearance in text: rs2161525
PubMed Link:
29389944
Variant Present in the following documents:
Main text
pone.0192024.pdf
View BVdb publication page
Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.
Human Genome Variation
Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H
Publication Date: 2017
Variant appearance in text: rs2161525
PubMed Link:
28690861
Variant Present in the following documents:
hgv201727-s1.xls, sheet 1
View BVdb publication page