C1QA c.125G>A ;(p.R42Q)

Variant ID: 1-22964234-G-A

NM_015991.2(C1QA):c.125G>A;(p.R42Q)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics
Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,
Publication Date: 2022-12-01

Variant appearance in text: C1QA: R42Q; rs201693493
PubMed Link: 36413997
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



Whole exome sequencing identified a novel POT1 variant as a candidate pathogenic allele underlying a Li-Fraumeni-like family.

Frontiers In Oncology
Li, Yuping Y; Xie, Yupeng Y; Wang, Di D; Xu, Hanyan H; Ye, Junru J; Yin, Jiani C JC; Chen, Junjie J; Yan, Junrong J; Ye, Bin B; Chen, Chengshui C
Publication Date: 2022

Variant appearance in text: C1QA: 125G>A; R42K
PubMed Link: 36387164
Variant Present in the following documents:
  • Table_1.xlsx, sheet 1
View BVdb publication page



C1QA and C1QC modify age-at-onset in familial amyloid polyneuropathy patients.

Annals Of Clinical And Translational Neurology
Dias, Andreia A; Santos, Diana D; Coelho, Teresa T; Alves-Ferreira, Miguel M; Sequeiros, Jorge J; Alonso, Isabel I; Sousa, Alda A; Lemos, Carolina C
Publication Date: 2019-04

Variant appearance in text: C1QA: Arg42Gln; rs201693493
PubMed Link: 31019999
Variant Present in the following documents:
  • Main text
  • ACN3-6-748.pdf
View BVdb publication page



A Landscape of Pharmacogenomic Interactions in Cancer.

Cell
Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ
Publication Date: 2016-07-28

Variant appearance in text: C1QA: 125G>A; R42Q
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 3
View BVdb publication page



Variation in complement protein C1q is not a major contributor to cognitive impairment in Parkinson's disease.

Neuroscience Letters
Carbutt, Sophia S; Duff, Jennifer J; Yarnall, Alison A; Burn, David J DJ; Hudson, Gavin G
Publication Date: 2015-05-06

Variant appearance in text: C1QA: R42Q
PubMed Link: 25817358
Variant Present in the following documents:
  • mmc1.pdf
View BVdb publication page