COL4A5 c.688G>T ;(p.G230C)

Variant ID: X-107821521-G-T

NM_033380.2(COL4A5):c.688G>T;(p.G230C)

This variant was identified in 1 publication

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Trimerization and Genotype-Phenotype Correlation of COL4A5 Mutants in Alport Syndrome.

Kidney International Reports
Kamura, Misato M; Yamamura, Tomohiko T; Omachi, Kohei K; Suico, Mary Ann MA; Nozu, Kandai K; Kaseda, Shota S; Kuwazuru, Jun J; Shuto, Tsuyoshi T; Iijima, Kazumoto K; Kai, Hirofumi H
Publication Date: 2020-05

Variant appearance in text: COL4A5: G230C
PubMed Link: 32405592
Variant Present in the following documents:
  • Main text
  • main.pdf
  • mmc1.pdf
View BVdb publication page