CP c.796A>G ;(p.T266A)

Variant ID: 3-148925390-T-C

NM_000096.3(CP):c.796A>G;(p.T266A)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


EML1-associated brain overgrowth syndrome with ribbon-like heterotopia.

American Journal Of Medical Genetics. Part C, Seminars In Medical Genetics
Oegema, Renske R; McGillivray, George G; Leventer, Richard R; Le Moing, Anne-Gaƫlle AG; Bahi-Buisson, Nadia N; Barnicoat, Angela A; Mandelstam, Simone S; Francis, David D; Francis, Fiona F; Mancini, Grazia M S GMS; Savelberg, Sanne S; van Haaften, Gijs G; Mankad, Kshitij K; Lequin, Maarten H MH
Publication Date: 2019-12

Variant appearance in text: CP: 796A>G
PubMed Link: 31710781
Variant Present in the following documents:
  • Main text
  • AJMG-181-627.pdf
View BVdb publication page



Resistance to Plum Pox Virus (PPV) in apricot (Prunus armeniaca L.) is associated with down-regulation of two MATHd genes.

Bmc Plant Biology
Zuriaga, Elena E; Romero, Carlos C; Blanca, Jose Miguel JM; Badenes, Maria Luisa ML
Publication Date: 2018-01-27

Variant appearance in text: CP: Thr266Ala
PubMed Link: 29374454
Variant Present in the following documents:
  • Main text
  • 12870_2018_Article_1237.pdf
View BVdb publication page



Identification of the ABO*cis-AB04 Allele With a Unique Substitution C796A: The First Case in Korea.

Annals Of Laboratory Medicine
Yoon, Jung J; Youk, Hee Jeong HJ; Chang, Jung Hee JH; Jang, Mi Ae MA; Choi, Ji Ho JH; Nam, Myung Hyun MH; Choi, Ji Seon JS; Lim, Chae Seung CS
Publication Date: 2016-11

Variant appearance in text: CP: 796A>G
PubMed Link: 27578521
Variant Present in the following documents:
  • alm-36-620.pdf
View BVdb publication page