SI c.2677G>C ;(p.A893P)

Variant ID: 3-164750369-C-G

NM_001041.3(SI):c.2677G>C;(p.A893P)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Last Nucleotide Substitutions of COL4A5 Exons Cause Aberrant Splicing.

Kidney International Reports
Aoto, Yuya Y; Horinouchi, Tomoko T; Yamamura, Tomohiko T; Kondo, Atsushi A; Nagai, Sadayuki S; Ishiko, Shinya S; Okada, Eri E; Rossanti, Rini R; Sakakibara, Nana N; Nagano, China C; Awano, Hiroyuki H; Nagase, Hiroaki H; Shima, Yuko Y; Nakanishi, Koichi K; Matsuo, Masafumi M; Iijima, Kazumoto K; Nozu, Kandai K
Publication Date: 2022-01

Variant appearance in text: SI: 2677G>C
PubMed Link: 35005319
Variant Present in the following documents:
  • main.pdf
View BVdb publication page



Distribution of genetic polymorphisms of genes encoding drug metabolizing enzymes & drug transporters - a review with Indian perspective.

The Indian Journal Of Medical Research
Umamaheswaran, Gurusamy G; Kumar, Dhakchinamoorthi Krishna DK; Adithan, Chandrasekaran C
Publication Date: 2014-01

Variant appearance in text: SI: Ala893Pro
PubMed Link: 24604039
Variant Present in the following documents:
  • IJMR-139-27.pdf
View BVdb publication page