ABCA4 c.768+6240C>T

Variant ID: 1-94558110-G-A

NM_000350.2(ABCA4):c.768+6240C>T

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Integrative approaches generate insights into the architecture of non-syndromic cleft lip with or without cleft palate.

Hgg Advances
Welzenbach, Julia J; Hammond, Nigel L NL; Nikolić, Miloš M; Thieme, Frederic F; Ishorst, Nina N; Leslie, Elizabeth J EJ; Weinberg, Seth M SM; Beaty, Terri H TH; Marazita, Mary L ML; Mangold, Elisabeth E; Knapp, Michael M; Cotney, Justin J; Rada-Iglesias, Alvaro A; Dixon, Michael J MJ; Ludwig, Kerstin U KU
Publication Date: 2021-07-08

Variant appearance in text: rs66515264
PubMed Link: 35047836
Variant Present in the following documents:
  • mmc1.pdf
  • mmc3.pdf
View BVdb publication page



Genetic factors define CPO and CLO subtypes of nonsyndromicorofacial cleft.

Plos Genetics
Huang, Lulin L; Jia, Zhonglin Z; Shi, Yi Y; Du, Qin Q; Shi, Jiayu J; Wang, Ziyan Z; Mou, Yandong Y; Wang, Qingwei Q; Zhang, Bihe B; Wang, Qing Q; Ma, Shi S; Lin, He H; Duan, Shijun S; Yin, Bin B; Lin, Yansong Y; Wang, Yiru Y; Jiang, Dan D; Hao, Fang F; Zhang, Lin L; Wang, Haixin H; Jiang, Suyuan S; Xu, Huijuan H; Yang, Chengwei C; Li, Chenghao C; Li, Jingtao J; Shi, Bing B; Yang, Zhenglin Z
Publication Date: 2019-10

Variant appearance in text: rs66515264
PubMed Link: 31609978
Variant Present in the following documents:
  • Main text
  • pgen.1008357.pdf
View BVdb publication page



Six NSCL/P Loci Show Associations With Normal-Range Craniofacial Variation.

Frontiers In Genetics
Indencleef, Karlijne K; Roosenboom, Jasmien J; Hoskens, Hanne H; White, Julie D JD; Shriver, Mark D MD; Richmond, Stephen S; Peeters, Hilde H; Feingold, Eleanor E; Marazita, Mary L ML; Shaffer, John R JR; Weinberg, Seth M SM; Hens, Greet G; Claes, Peter P
Publication Date: 2018

Variant appearance in text: rs66515264
PubMed Link: 30410503
Variant Present in the following documents:
  • Main text
  • fgene-09-00502.pdf
View BVdb publication page



Identification of 16q21 as a modifier of nonsyndromic orofacial cleft phenotypes.

Genetic Epidemiology
Carlson, Jenna C JC; Standley, Jennifer J; Petrin, Aline A; Shaffer, John R JR; Butali, Azeez A; Buxó, Carmen J CJ; Castilla, Eduardo E; Christensen, Kaare K; Deleyiannis, Frederic W-D FW; Hecht, Jacqueline T JT; Field, L Leigh LL; Garidkhuu, Ariuntuul A; Moreno Uribe, Lina M LM; Nagato, Natsume N; Orioli, Ieda M IM; Padilla, Carmencita C; Poletta, Fernando F; Suzuki, Satoshi S; Vieira, Alexandre R AR; Wehby, George L GL; Weinberg, Seth M SM; Beaty, Terri H TH; Feingold, Eleanor E; Murray, Jeffrey C JC; Marazita, Mary L ML; Leslie, Elizabeth J EJ
Publication Date: 2017-12

Variant appearance in text: rs66515264
PubMed Link: 29124805
Variant Present in the following documents:
  • Main text
View BVdb publication page



Identification of common non-coding variants at 1p22 that are functional for non-syndromic orofacial clefting.

Nature Communications
Liu, Huan H; Leslie, Elizabeth J EJ; Carlson, Jenna C JC; Beaty, Terri H TH; Marazita, Mary L ML; Lidral, Andrew C AC; Cornell, Robert A RA
Publication Date: 2017-03-13

Variant appearance in text: rs66515264
PubMed Link: 28287101
Variant Present in the following documents:
  • Main text
  • ncomms14759.pdf
View BVdb publication page



Genome-wide meta-analyses of nonsyndromic orofacial clefts identify novel associations between FOXE1 and all orofacial clefts, and TP63 and cleft lip with or without cleft palate.

Human Genetics
Leslie, Elizabeth J EJ; Carlson, Jenna C JC; Shaffer, John R JR; Butali, Azeez A; Buxó, Carmen J CJ; Castilla, Eduardo E EE; Christensen, Kaare K; Deleyiannis, Fred W B FW; Leigh Field, L L; Hecht, Jacqueline T JT; Moreno, Lina L; Orioli, Ieda M IM; Padilla, Carmencita C; Vieira, Alexandre R AR; Wehby, George L GL; Feingold, Eleanor E; Weinberg, Seth M SM; Murray, Jeffrey C JC; Beaty, Terri H TH; Marazita, Mary L ML
Publication Date: 2017-03

Variant appearance in text: rs66515264
PubMed Link: 28054174
Variant Present in the following documents:
  • Main text
View BVdb publication page