ABCA4 c.768+1580G>A

Variant ID: 1-94562770-C-T

NM_000350.2(ABCA4):c.768+1580G>A

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Targeted re-sequencing on 1p22 among non-syndromic orofacial clefts from Han Chinese population.

Frontiers In Genetics
Li, Mu-Jia MJ; Shi, Jia-Yu JY; Zhang, Bi-He BH; Chen, Qian-Ming QM; Shi, Bing B; Jia, Zhong-Lin ZL
Publication Date: 2022

Variant appearance in text: rs77179923
PubMed Link: 36061182
Variant Present in the following documents:
  • Main text
  • fgene-13-947126.pdf
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: rs77179923
PubMed Link: 28287101
Variant Present in the following documents:
  • Main text
  • ncomms14759.pdf
View BVdb publication page



Identification of functional variants for cleft lip with or without cleft palate in or near PAX7, FGFR2, and NOG by targeted sequencing of GWAS loci.

American Journal Of Human Genetics
Leslie, Elizabeth J EJ; Taub, Margaret A MA; Liu, Huan H; Steinberg, Karyn Meltz KM; Koboldt, Daniel C DC; Zhang, Qunyuan Q; Carlson, Jenna C JC; Hetmanski, Jacqueline B JB; Wang, Hang H; Larson, David E DE; Fulton, Robert S RS; Kousa, Youssef A YA; Fakhouri, Walid D WD; Naji, Ali A; Ruczinski, Ingo I; Begum, Ferdouse F; Parker, Margaret M MM; Busch, Tamara T; Standley, Jennifer J; Rigdon, Jennifer J; Hecht, Jacqueline T JT; Scott, Alan F AF; Wehby, George L GL; Christensen, Kaare K; Czeizel, Andrew E AE; Deleyiannis, Frederic W-B FW; Schutte, Brian C BC; Wilson, Richard K RK; Cornell, Robert A RA; Lidral, Andrew C AC; Weinstock, George M GM; Beaty, Terri H TH; Marazita, Mary L ML; Murray, Jeffrey C JC
Publication Date: 2015-03-05

Variant appearance in text: rs77179923
PubMed Link: 25704602
Variant Present in the following documents:
  • Main text
View BVdb publication page