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ABCA4 c.6284A>T ;(p.D2095V)
Variant ID: 1-94466660-T-A
NM_000350.2(
ABCA4
):c.6284A>T;(p.D2095V)
This variant was identified in 4 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Different Phenotypes Represent Advancing Stages of ABCA4-Associated Retinopathy: A Longitudinal Study of 212 Chinese Families From a Tertiary Center.
Investigative Ophthalmology & Visual Science
Wang, Yingwei Y; Sun, Wenmin W; Zhou, Jing J; Li, Xueqing X; Jiang, Yi Y; Li, Shiqiang S; Jia, Xiaoyun X; Xiao, Xueshan X; Ouyang, Jiamin J; Wang, Yueye Y; Zhou, Lin L; Long, Yuxi Y; Liu, Mengchu M; Li, Yongyu Y; Yi, Zhen Z; Wang, Panfeng P; Zhang, Qingjiong Q
Publication Date: 2022-05-02
Variant appearance in text: ABCA4: 6284A>T; Asp2095Val
PubMed Link:
35608843
Variant Present in the following documents:
iovs-63-5-28_s010.pdf
View BVdb publication page
A novel statistical method for interpreting the pathogenicity of rare variants.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Wang, Jun J; Liu, Hehe H; Bertrand, Renae Elaine RE; Sarrion-Perdigones, Alejandro A; Gonzalez, Yezabel Y; Venken, Koen J T KJT; Chen, Rui R
Publication Date: 2021-01
Variant appearance in text: ABCA4: D2095V
PubMed Link:
32884132
Variant Present in the following documents:
NIHMS1630822-supplement-Supplementary_Tables.xlsx, sheet 6
View BVdb publication page
Mutational Profile of Metastatic Breast Cancers: A Retrospective Analysis.
Plos Medicine
Lefebvre, Celine C; Bachelot, Thomas T; Filleron, Thomas T; Pedrero, Marion M; Campone, Mario M; Soria, Jean-Charles JC; Massard, Christophe C; Lévy, Christelle C; Arnedos, Monica M; Lacroix-Triki, Magali M; Garrabey, Julie J; Boursin, Yannick Y; Deloger, Marc M; Fu, Yu Y; Commo, Frédéric F; Scott, Véronique V; Lacroix, Ludovic L; Dieci, Maria Vittoria MV; Kamal, Maud M; Diéras, Véronique V; Gonçalves, Anthony A; Ferrerro, Jean-Marc JM; Romieu, Gilles G; Vanlemmens, Laurence L; Mouret Reynier, Marie-Ange MA; Théry, Jean-Christophe JC; Le Du, Fanny F; Guiu, Séverine S; Dalenc, Florence F; Clapisson, Gilles G; Bonnefoi, Hervé H; Jimenez, Marta M; Le Tourneau, Christophe C; André, Fabrice F
Publication Date: 2016-12
Variant appearance in text: ABCA4: Asp2095Val
PubMed Link:
28027327
Variant Present in the following documents:
pmed.1002201.s012.xlsx, sheet 1
View BVdb publication page
Identification of Genetic Defects in 33 Probands with Stargardt Disease by WES-Based Bioinformatics Gene Panel Analysis.
Plos One
Xin, Wei W; Xiao, Xueshan X; Li, Shiqiang S; Jia, Xiaoyun X; Guo, Xiangming X; Zhang, Qingjiong Q
Publication Date: 2015
Variant appearance in text: ABCA4: 6284A>T
PubMed Link:
26161775
Variant Present in the following documents:
Main text
pone.0132635.pdf
View BVdb publication page