MED16 c.1291T>G ;(p.L431V)

Variant ID: 19-879999-A-C

NM_005481.2(MED16):c.1291T>G;(p.L431V)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Mono- and biallelic germline variants of DNA glycosylase genes in colon adenomatous polyposis families from two continents.

Frontiers In Oncology
Olkinuora, Alisa Petriina AP; Mayordomo, Andrea Constanza AC; Kauppinen, Anni Katariina AK; Cerliani, María Belén MB; Coraglio, Mariana M; Collia, Ávila Karina ÁK; Gutiérrez, Alejandro A; Alvarez, Karin K; Cassana, Alessandra A; Lopéz-Köstner, Francisco F; Jauk, Federico F; García-Rivello, Hernán H; Ristimäki, Ari A; Koskenvuo, Laura L; Lepistö, Anna A; Nieminen, Taina Tuulikki TT; Vaccaro, Carlos Alberto CA; Pavicic, Walter Hernán WH; Peltomäki, Päivi P
Publication Date: 2022

Variant appearance in text: MED16: 1291T>G
PubMed Link: 36387175
Variant Present in the following documents:
  • Table_7.xlsx, sheet 1
View BVdb publication page