COL5A1 c.5270C>T ;(p.T1757M)

Variant ID: 9-137726950-C-T

NM_000093.4(COL5A1):c.5270C>T;(p.T1757M)

This variant was identified in 14 publications

View GRCh38 version.




Publications:


Comprehensive proteogenomic characterization of early duodenal cancer reveals the carcinogenesis tracks of different subtypes.

Nature Communications
Li, Lingling L; Jiang, Dongxian D; Liu, Hui H; Guo, Chunmei C; Zhao, Rui R; Zhang, Qiao Q; Xu, Chen C; Qin, Zhaoyu Z; Feng, Jinwen J; Liu, Yang Y; Wang, Haixing H; Chen, Weijie W; Zhang, Xue X; Li, Bin B; Bai, Lin L; Tian, Sha S; Tan, Subei S; Yu, Zixiang Z; Chen, Lingli L; Huang, Jie J; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C
Publication Date: 2023-03-29

Variant appearance in text: COL5A1: T1757M; rs2229817
PubMed Link: 36991000
Variant Present in the following documents:
  • 41467_2023_37221_MOESM5_ESM.xlsx, sheet 3
View BVdb publication page



Integrative single-cell analysis reveals transcriptional and epigenetic regulatory features of clear cell renal cell carcinoma.

Cancer Research
Yu, Zhenyuan Z; Lv, Yufang Y; Su, Cheng C; Lu, Wenhao W; Zhang, RuiRui R; Li, Jiaping J; Guo, Bingqian B; Yan, Haibiao H; Liu, Deyun D; Yang, Zhanbin Z; Mi, Hua H; Mo, Linjian L; Guo, Yi Y; Feng, Wenyu W; Xu, Haotian H; Peng, Wenyi W; Cheng, Jiwen J; Nan, Aruo A; Mo, Zengnan Z
Publication Date: 2023-01-06

Variant appearance in text: COL5A1: T1757M; rs2229817
PubMed Link: 36607615
Variant Present in the following documents:
  • can-22-2224_table_s8_suppst8.xlsx, sheet 19
  • can-22-2224_table_s8_suppst8.xlsx, sheet 1
  • can-22-2224_table_s8_suppst8.xlsx, sheet 12
  • can-22-2224_table_s8_suppst8.xlsx, sheet 8
View BVdb publication page



The complex genetic basis of fibromuscular dysplasia, a systemic arteriopathy associated with multiple forms of cardiovascular disease.

Clinical Science (London, England : 1979)
Georges, Adrien A; Bouatia-Naji, Nabila N
Publication Date: 2022-08-31

Variant appearance in text: COL5A1: 5270C>T; Thr1757Met
PubMed Link: 36043395
Variant Present in the following documents:
  • Main text
  • cs-136-cs20210990.pdf
View BVdb publication page



Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Frontiers In Cellular And Infection Microbiology
Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA
Publication Date: 2021

Variant appearance in text: COL5A1: Thr1757Met; rs2229817
PubMed Link: 33791233
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Genomic analysis of 21 patients with corneal neuralgia after refractive surgery.

Pain Reports
Yuan, Jun-Hui JH; Schulman, Betsy R BR; Effraim, Philip R PR; Sulayman, Dib-Hajj DH; Jacobs, Deborah S DS; Waxman, Stephen G SG
Publication Date: 2020

Variant appearance in text: COL5A1: T1757M
PubMed Link: 32766464
Variant Present in the following documents:
  • painreports-5-e826.pdf
View BVdb publication page



A comparative analysis of genetic hearing loss phenotypes in European/American and Japanese populations.

Human Genetics
Walls, W Daniel WD; Moteki, Hideaki H; Thomas, Taylor R TR; Nishio, Shin-Ya SY; Yoshimura, Hidekane H; Iwasa, Yoichiro Y; Frees, Kathy L KL; Nishimura, Carla J CJ; Azaiez, Hela H; Booth, Kevin T KT; Marini, Robert J RJ; Kolbe, Diana L DL; Weaver, A Monique AM; Schaefer, Amanda M AM; Wang, Kai K; Braun, Terry A TA; Usami, Shin-Ichi SI; Barr-Gillespie, Peter G PG; Richardson, Guy P GP; Smith, Richard J RJ; Casavant, Thomas L TL
Publication Date: 2020-10

Variant appearance in text: COL5A1: Thr1757Met; rs2229817
PubMed Link: 32382995
Variant Present in the following documents:
  • Main text
View BVdb publication page



Rare genetic variants in patients with cervical artery dissection.

European Stroke Journal
Traenka, Christopher C; Kloss, Manja M; Strom, Tim T; Lyrer, Philippe P; Brandt, Tobias T; Bonati, Leo H LH; Grond-Ginsbach, Caspar C; Engelter, Stefan S
Publication Date: 2019-12

Variant appearance in text: COL5A1: Thr1757Met; rs2229817
PubMed Link: 31903434
Variant Present in the following documents:
  • Main text
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: COL5A1: 5270C>T; Thr1757Met; rs2229817
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_7.xlsx, sheet 1
  • Table_6.xlsx, sheet 1
View BVdb publication page



Rare, potentially pathogenic variants in 21 keratoconus candidate genes are not enriched in cases in a large Australian cohort of European descent.

Plos One
Lucas, Sionne E M SEM; Zhou, Tiger T; Blackburn, Nicholas B NB; Mills, Richard A RA; Ellis, Jonathan J; Leo, Paul P; Souzeau, Emmanuelle E; Ridge, Bronwyn B; Charlesworth, Jac C JC; Lindsay, Richard R; Craig, Jamie E JE; Burdon, Kathryn P KP
Publication Date: 2018

Variant appearance in text: COL5A1: 5270C>T; T1757M; rs2229817
PubMed Link: 29924831
Variant Present in the following documents:
  • pone.0199178.s003.xlsx, sheet 1
View BVdb publication page



Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S
Publication Date: 2017-10

Variant appearance in text: COL5A1: 5270C>T; Thr1757Met
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



Identification of EML4-ALK as an alternative fusion gene in epithelioid inflammatory myofibroblastic sarcoma.

Orphanet Journal Of Rare Diseases
Jiang, Quan Q; Tong, Han-Xing HX; Hou, Ying-Yong YY; Zhang, Yong Y; Li, Jing-Lei JL; Zhou, Yu-Hong YH; Xu, Jing J; Wang, Jiong-Yuan JY; Lu, Wei-Qi WQ
Publication Date: 2017-05-23

Variant appearance in text: COL5A1: T1757M; rs2229817
PubMed Link: 28535796
Variant Present in the following documents:
  • 13023_2017_647_MOESM1_ESM.xlsx, sheet 4
View BVdb publication page



Rare mutations and potentially damaging missense variants in genes encoding fibrillar collagens and proteins involved in their production are candidates for risk for preterm premature rupture of membranes.

Plos One
Modi, Bhavi P BP; Teves, Maria E ME; Pearson, Laurel N LN; Parikh, Hardik I HI; Chaemsaithong, Piya P; Sheth, Nihar U NU; York, Timothy P TP; Romero, Roberto R; Strauss, Jerome F JF
Publication Date: 2017

Variant appearance in text: rs2229817
PubMed Link: 28346524
Variant Present in the following documents:
  • Main text
  • pone.0174356.pdf
View BVdb publication page



Whole-genome sequencing of the world's oldest people.

Plos One
Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK
Publication Date: 2014

Variant appearance in text: COL5A1: T1757M; rs2229817
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.xlsx, sheet 1
View BVdb publication page



Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration.

Nature Genetics
Seddon, Johanna M JM; Yu, Yi Y; Miller, Elizabeth C EC; Reynolds, Robyn R; Tan, Perciliz L PL; Gowrisankar, Sivakumar S; Goldstein, Jacqueline I JI; Triebwasser, Michael M; Anderson, Holly E HE; Zerbib, Jennyfer J; Kavanagh, David D; Souied, Eric E; Katsanis, Nicholas N; Daly, Mark J MJ; Atkinson, John P JP; Raychaudhuri, Soumya S
Publication Date: 2013-11

Variant appearance in text: COL5A1: T1757M; rs2229817
PubMed Link: 24036952
Variant Present in the following documents:
  • NIHMS512112-supplement-2.xlsx, sheet 2
View BVdb publication page