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