ABCA4 c.3846del ;(p.G1283Dfs*106)

Variant ID: 1-94502312-CT-C

NM_000350.2(ABCA4):c.3846del;(p.G1283Dfs*106)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


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: 3846delA
PubMed Link: 32884132
Variant Present in the following documents:
  • NIHMS1630822-supplement-Supplementary_Tables.xlsx, sheet 6
View BVdb publication page



CLINICAL CHARACTERIZATION OF STARGARDT DISEASE PATIENTS WITH THE p.N1868I ABCA4 MUTATION.

Retina (Philadelphia, Pa.)
Collison, Frederick T FT; Lee, Winston W; Fishman, Gerald A GA; Park, Jason C JC; Zernant, Jana J; McAnany, J Jason JJ; Allikmets, Rando R
Publication Date: 2019-12

Variant appearance in text: ABCA4: 3846delA; G1283fs
PubMed Link: 30204727
Variant Present in the following documents:
  • Main text
View BVdb publication page



Frequent hypomorphic alleles account for a significant fraction of ABCA4 disease and distinguish it from age-related macular degeneration.

Journal Of Medical Genetics
Zernant, Jana J; Lee, Winston W; Collison, Frederick T FT; Fishman, Gerald A GA; Sergeev, Yuri V YV; Schuerch, Kaspar K; Sparrow, Janet R JR; Tsang, Stephen H SH; Allikmets, Rando R
Publication Date: 2017-06

Variant appearance in text: ABCA4: 3846del
PubMed Link: 28446513
Variant Present in the following documents:
  • Main text
View BVdb publication page



Analysis of the ABCA4 gene by next-generation sequencing.

Investigative Ophthalmology & Visual Science
Zernant, Jana J; Schubert, Carl C; Im, Kate M KM; Burke, Tomas T; Brown, Carolyn M CM; Fishman, Gerald A GA; Tsang, Stephen H SH; Gouras, Peter P; Dean, Michael M; Allikmets, Rando R
Publication Date: 2011-10-31

Variant appearance in text: ABCA4: 3846delA
PubMed Link: 21911583
Variant Present in the following documents:
  • Main text
View BVdb publication page