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CD4 c.823G>C ;(p.G275R)
Variant ID: 12-6925437-G-C
NM_000616.4(
CD4
):c.823G>C;(p.G275R)
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:
A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.
Human Genome Variation
Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-09-08
Variant appearance in text: CD4: G275R
PubMed Link:
36075891
Variant Present in the following documents:
41439_2022_208_MOESM3_ESM.xlsx, sheet 2
View BVdb publication page
Genetic Influence on Frequencies of Myeloid-Derived Cell Subpopulations in Mouse.
Frontiers In Immunology
Krayem, Imtissal I; Sohrabi, Yahya Y; Javorková, Eliška E; Volkova, Valeriya V; Strnad, Hynek H; Havelková, Helena H; Vojtíšková, Jarmila J; Aidarova, Aigerim A; Holáň, Vladimír V; Demant, Peter P; Lipoldová, Marie M
Publication Date: 2021
Variant appearance in text: CD4: G275R
PubMed Link:
35154069
Variant Present in the following documents:
Main text
fimmu-12-760881.pdf
View BVdb publication page