COL4A5 c.1129G>A ;(p.G377R)

Variant ID: X-107829941-G-A

NM_033380.2(COL4A5):c.1129G>A;(p.G377R)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Assessing variants of uncertain significance implicated in hearing loss using a comprehensive deafness proteome.

Human Genetics
Tollefson, Mallory R MR; Gogal, Rose A RA; Weaver, A Monique AM; Schaefer, Amanda M AM; Marini, Robert J RJ; Azaiez, Hela H; Kolbe, Diana L DL; Wang, Donghong D; Weaver, Amy E AE; Casavant, Thomas L TL; Braun, Terry A TA; Smith, Richard J H RJH; Schnieders, Michael J MJ
Publication Date: 2023-04-22

Variant appearance in text: COL4A5: 1129G>A; Gly377Arg
PubMed Link: 37086329
Variant Present in the following documents:
  • 439_2023_2559_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Novel and Founder Pathogenic Variants in X-Linked Alport Syndrome Families in Greece.

Genes
Hadjipanagi, Despina D; Papagregoriou, Gregory G; Koutsofti, Constantina C; Polydorou, Christiana C; Alivanis, Polichronis P; Andrikos, Aimilios A; Christodoulidou, Stalo S; Dardamanis, Manthos M; Diamantopoulos, Athanasios A AA; Fountoglou, Anastasios A; Frangou, Eleni E; Georgaki, Eleni E; Giannikouris, Ioannis I; Gkinis, Velissarios V; Goudas, Pavlos C PC; Kalaitzidis, Rigas G RG; Kaperonis, Nikolaos N; Koutroumpas, Georgios G; Makrydimas, George G; Myserlis, Grigorios G; Mitsioni, Andromachi A; Paliouras, Christos C; Papachristou, Fotios F; Papadopoulou, Dorothea D; Papagalanis, Nikolaos N; Papagianni, Aikaterini A; Perysinaki, Garyfalia G; Siomou, Ekaterini E; Sombolos, Konstantinos K; Tzanakis, Ioannis I; Vergoulas, Georgios V GV; Printza, Nicoletta N; Deltas, Constantinos C
Publication Date: 2022-11-24

Variant appearance in text: COL4A5: 1129G>A; G377R
PubMed Link: 36553470
Variant Present in the following documents:
  • genes-13-02203.pdf
View BVdb publication page



Abstracts of the 53rd ESPN Annual Meeting, Amsterdam, The Netherlands, September 2021.

Pediatric Nephrology (Berlin, Germany)
Publication Date: 2021-08-25

Variant appearance in text: COL4A5: 1129G>A
PubMed Link: 34432141
Variant Present in the following documents:
  • 467_2021_Article_5210.pdf
View BVdb publication page



High throughput profiling of undifferentiated pleomorphic sarcomas identifies two main subgroups with distinct immune profile, clinical outcome and sensitivity to targeted therapies.

Ebiomedicine
Toulmonde, Maud M; Lucchesi, Carlo C; Verbeke, Stéphanie S; Crombe, Amandine A; Adam, Julien J; Geneste, Damien D; Chaire, Vanessa V; Laroche-Clary, Audrey A; Perret, Raul R; Bertucci, François F; Bertolo, Frederic F; Bianchini, Laurence L; Dadone-Montaudie, Bérengère B; Hembrough, Todd T; Sweet, Steve S; Kim, Yeoun Jin YJ; Cecchi, Fabiola F; Le Loarer, François F; Italiano, Antoine A
Publication Date: 2020-12

Variant appearance in text: COL4A5: 1129G>A; G377R
PubMed Link: 33254023
Variant Present in the following documents:
  • mmc5.xlsx, sheet 1
View BVdb publication page