COL2A1 c.292+176C>T

Variant ID: 12-48393526-G-A

NM_001844.4(COL2A1):c.292+176C>T

This variant was identified in 8 publications

View GRCh38 version.




Publications:


Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports
Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-10-14

Variant appearance in text: rs1793953
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2
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: rs1793953
PubMed Link: 36075891
Variant Present in the following documents:
  • 41439_2022_208_MOESM4_ESM.xlsx, sheet 2
  • 41439_2022_208_MOESM5_ESM.xlsx, sheet 2
View BVdb publication page



Orofacial Cleft and Mandibular Prognathism-Human Genetics and Animal Models.

International Journal Of Molecular Sciences
Jaruga, Anna A; Ksiazkiewicz, Jakub J; Kuzniarz, Krystian K; Tylzanowski, Przemko P
Publication Date: 2022-01-16

Variant appearance in text: rs1793953
PubMed Link: 35055138
Variant Present in the following documents:
  • Main text
  • ijms-23-00953.pdf
View BVdb publication page



Orofacial Cleft and Mandibular Prognathism-Human Genetics and Animal Models.

International Journal Of Molecular Sciences
Jaruga, Anna A; Ksiazkiewicz, Jakub J; Kuzniarz, Krystian K; Tylzanowski, Przemko P
Publication Date: 2022-01-16

Variant appearance in text: rs1793953
PubMed Link: 35055138
Variant Present in the following documents:
  • Main text
  • ijms-23-00953.pdf
View BVdb publication page



The Role of Polymorphisms in Collagen-Encoding Genes in Intervertebral Disc Degeneration.

Biomolecules
Trefilova, Vera V VV; Shnayder, Natalia A NA; Petrova, Marina M MM; Kaskaeva, Daria S DS; Tutynina, Olga V OV; Petrov, Kirill V KV; Popova, Tatiana E TE; Balberova, Olga V OV; Medvedev, German V GV; Nasyrova, Regina F RF
Publication Date: 2021-08-26

Variant appearance in text: rs1793953
PubMed Link: 34572492
Variant Present in the following documents:
  • Main text
  • biomolecules-11-01279.pdf
View BVdb publication page



Alterations in ECM signature underscore multiple sub-phenotypes of intervertebral disc degeneration.

Matrix Biology Plus
Ohnishi, Takashi T; Novais, Emanuel J EJ; Risbud, Makarand V MV
Publication Date: 2020-05

Variant appearance in text: rs1793953
PubMed Link: 33543030
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



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: rs1793953
PubMed Link: 33302902
Variant Present in the following documents:
  • 12886_2020_1711_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Common variants in the COL2A1 gene are associated with lattice degeneration of the retina in a Japanese population.

Molecular Vision
Okazaki, Shinya S; Meguro, Akira A; Ideta, Ryuichi R; Takeuchi, Masaki M; Yonemoto, Junichi J; Teshigawara, Takeshi T; Yamane, Takahiro T; Okada, Eiichi E; Ideta, Hidenao H; Mizuki, Nobuhisa N
Publication Date: 2019

Variant appearance in text: rs1793953
PubMed Link: 31908402
Variant Present in the following documents:
  • Main text
  • mv-v25-843.pdf
View BVdb publication page



Intervertebral Disc Biology: Genetic Basis of Disc Degeneration.

Current Molecular Biology Reports
Munir, Sabrina S; Rade, Marinko M; Määttä, Juhani H JH; Freidin, Maxim B MB; Williams, Frances M K FMK
Publication Date: 2018

Variant appearance in text: rs1793953
PubMed Link: 30464887
Variant Present in the following documents:
  • Main text
  • 40610_2018_Article_101.pdf
View BVdb publication page