COL4A5 c.3829C>A ;(p.P1277T)

Variant ID: X-107920750-C-A

NM_033380.2(COL4A5):c.3829C>A;(p.P1277T)

This variant was identified in 2 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: 3829C>A; Pro1277Thr
PubMed Link: 37086329
Variant Present in the following documents:
  • 439_2023_2559_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



High Incidence of COL4A Genetic Variants Among a Cohort of Children With Steroid-Resistant Nephrotic Syndrome From Eastern India.

Kidney International Reports
Sinha, Rajiv R; Ray Chaudhury, Arpita A; Sarkar, Subhankar S; Banerjee, Sushmita S; Pulai, Smartya S; Dasgupta, Saugat S; Muorah, Mordi M; Datta, Dipanjana D
Publication Date: 2022-04

Variant appearance in text: COL4A5: P1277T
PubMed Link: 35497790
Variant Present in the following documents:
  • mmc1.pdf
View BVdb publication page