CP c.319G>A ;(p.V107I)

Variant ID: 3-148930313-C-T

NM_000096.3(CP):c.319G>A;(p.V107I)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


FTO gene expression in diet-induced obesity is downregulated by Solanum fruit supplementation.

Open Life Sciences
Asuquo, Edeke Affiong EA; Nwodo, Okwesilieze Fred Chiletugo OFC; Assumpta, Anosike Chioma AC; Orizu, Uchendu Nene UN; Oziamara, Okoro Nkwachukwu ON; Solomon, Odiba Arome OA
Publication Date: 2022

Variant appearance in text: CP: V107I
PubMed Link: 35800074
Variant Present in the following documents:
  • biol-2022-0067.pdf
View BVdb publication page



DNA-based diagnosis of rare diseases in veterinary medicine: a 4.4 kb deletion of ITGB4 is associated with epidermolysis bullosa in Charolais cattle.

Bmc Veterinary Research
Peters, Martin M; Reber, Irene I; Jagannathan, Vidhya V; Raddatz, Barbara B; Wohlsein, Peter P; Drögemüller, Cord C
Publication Date: 2015-03-04

Variant appearance in text: CP: V107I
PubMed Link: 25890340
Variant Present in the following documents:
  • 12917_2015_366_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Nephrin mutations can cause childhood-onset steroid-resistant nephrotic syndrome.

Journal Of The American Society Of Nephrology : Jasn
Philippe, Aurélie A; Nevo, Fabien F; Esquivel, Ernie L EL; Reklaityte, Dalia D; Gribouval, Olivier O; Tête, Marie-Josèphe MJ; Loirat, Chantal C; Dantal, Jacques J; Fischbach, Michel M; Pouteil-Noble, Claire C; Decramer, Stéphane S; Hoehne, Martin M; Benzing, Thomas T; Charbit, Marina M; Niaudet, Patrick P; Antignac, Corinne C
Publication Date: 2008-10

Variant appearance in text:
PubMed Link: 18614772
Variant Present in the following documents:
  • Main text
View BVdb publication page