ABCA4 c.2852T>C ;(p.I951T)

Variant ID: 1-94512541-A-G

NM_000350.2(ABCA4):c.2852T>C;(p.I951T)

This variant was identified in 5 publications

View GRCh38 version.




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: 2852T>C; Ile951Thr
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: I951T
PubMed Link: 32884132
Variant Present in the following documents:
  • NIHMS1630822-supplement-Supplementary_Tables.xlsx, sheet 6
View BVdb publication page



Interrogating Mutant Allele Expression via Customized Reference Genomes to Define Influential Cancer Mutations.

Scientific Reports
Grant, Adam D AD; Vail, Paris P; Padi, Megha M; Witkiewicz, Agnieszka K AK; Knudsen, Erik S ES
Publication Date: 2019-09-04

Variant appearance in text: ABCA4: I951T
PubMed Link: 31484939
Variant Present in the following documents:
  • 41598_2019_48967_MOESM2_ESM.xls, sheet 1
View BVdb publication page



A Report on Molecular Diagnostic Testing for Inherited Retinal Dystrophies by Targeted Genetic Analyses.

Genetic Testing And Molecular Biomarkers
Ramkumar, Hema L HL; Gudiseva, Harini V HV; Kishaba, Kameron T KT; Suk, John J JJ; Verma, Rohan R; Tadimeti, Keerti K; Thorson, John A JA; Ayyagari, Radha R
Publication Date: 2017-02

Variant appearance in text: ABCA4: 2852T>C; Ile951Thr
PubMed Link: 28005406
Variant Present in the following documents:
  • Main text
View BVdb publication page



Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes.

The Journal Of Clinical Investigation
Yuan, Bo B; Pehlivan, Davut D; Karaca, Ender E; Patel, Nisha N; Charng, Wu-Lin WL; Gambin, Tomasz T; Gonzaga-Jauregui, Claudia C; Sutton, V Reid VR; Yesil, Gozde G; Bozdogan, Sevcan Tug ST; Tos, Tulay T; Koparir, Asuman A; Koparir, Erkan E; Beck, Christine R CR; Gu, Shen S; Aslan, Huseyin H; Yuregir, Ozge Ozalp OO; Al Rubeaan, Khalid K; Alnaqeb, Dhekra D; Alshammari, Muneera J MJ; Bayram, Yavuz Y; Atik, Mehmed M MM; Aydin, Hatip H; Geckinli, B Bilge BB; Seven, Mehmet M; Ulucan, Hakan H; Fenercioglu, Elif E; Ozen, Mustafa M; Jhangiani, Shalini S; Muzny, Donna M DM; Boerwinkle, Eric E; Tuysuz, Beyhan B; Alkuraya, Fowzan S FS; Gibbs, Richard A RA; Lupski, James R JR
Publication Date: 2015-02

Variant appearance in text: ABCA4: Ile951Thr
PubMed Link: 25574841
Variant Present in the following documents:
  • Main text
View BVdb publication page