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ACTN2 c.1975-6C>G
Variant ID: 1-236918313-C-G
NM_001103.3(
ACTN2
):c.1975-6C>G
This variant was identified in 3 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: rs201255023
PubMed Link:
36075891
Variant Present in the following documents:
41439_2022_208_MOESM3_ESM.xlsx, sheet 2
41439_2022_208_MOESM5_ESM.xlsx, sheet 2
View BVdb publication page
Whole exome sequencing identified mutations causing hearing loss in five consanguineous Pakistani families.
Bmc Medical Genetics
Zhou, Yingjie Y; Tariq, Muhammad M; He, Sijie S; Abdullah, Uzma U; Zhang, Jianguo J; Baig, Shahid Mahmood SM
Publication Date: 2020-07-18
Variant appearance in text: ACTN2: 1975-6C>G; rs201255023
PubMed Link:
32682410
Variant Present in the following documents:
12881_2020_1087_MOESM1_ESM.xlsx, sheet 6
View BVdb publication page
Natural and Undetermined Sudden Death: Value of Post-Mortem Genetic Investigation.
Plos One
Sanchez, Olallo O; Campuzano, Oscar O; Fernández-Falgueras, Anna A; Sarquella-Brugada, Georgia G; Cesar, Sergi S; Mademont, Irene I; Mates, Jesus J; Pérez-Serra, Alexandra A; Coll, Monica M; Pico, Ferran F; Iglesias, Anna A; Tirón, Coloma C; Allegue, Catarina C; Carro, Esther E; Gallego, María Ángeles MÁ; Ferrer-Costa, Carles C; Hospital, Anna A; Bardalet, Narcís N; Borondo, Juan Carlos JC; Vingut, Albert A; Arbelo, Elena E; Brugada, Josep J; Castellà, Josep J; Medallo, Jordi J; Brugada, Ramon R
Publication Date: 2016
Variant appearance in text: ACTN2: 1975-6C>G; rs201255023
PubMed Link:
27930701
Variant Present in the following documents:
Main text
pone.0167358.pdf
View BVdb publication page