COL4A5 c.3170G>A ;(p.G1057E)

Variant ID: X-107869503-G-A

NM_033380.2(COL4A5):c.3170G>A;(p.G1057E)

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: 3170G>A; Gly1057Glu
PubMed Link: 37086329
Variant Present in the following documents:
  • 439_2023_2559_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



X-linked Alport syndrome: pathogenic variant features and further auditory genotype-phenotype correlations in males.

Orphanet Journal Of Rare Diseases
Zhang, Xiao X; Zhang, Yanqin Y; Zhang, Yanmei Y; Gu, Hongbo H; Chen, Zhe Z; Ren, Lei L; Lu, Xingxing X; Chen, Li L; Wang, Fang F; Liu, Yuhe Y; Ding, Jie J
Publication Date: 2018-12-22

Variant appearance in text: COL4A5: 3170G>A; Gly1057Glu
PubMed Link: 30577881
Variant Present in the following documents:
  • Main text
  • 13023_2018_Article_974.pdf
View BVdb publication page