HR c.1370A>G ;(p.K457R)

Variant ID: 8-21984585-T-C

NM_005144.4(HR):c.1370A>G;(p.K457R)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Novel F8 and F9 gene variants from the PedNet hemophilia registry classified according to ACMG/AMP guidelines.

Human Mutation
Andersson, Nadine G NG; Labarque, Veerle V; Letelier, Anna A; Mancuso, Maria Elisa ME; Bührlen, Martina M; Fischer, Kathelijn K; Kartal-Kaess, Mutlu M; Koskenvuo, Minna M; Mikkelsen, Torben T; Ljung, Rolf R; ,
Publication Date: 2020-12

Variant appearance in text: HR: 1370A>G; Lys457Arg
PubMed Link: 32935414
Variant Present in the following documents:
  • Main text
  • HUMU-41-2058.pdf
View BVdb publication page



Comprehensive analysis of BRCA1, BRCA2 and TP53 germline mutation and tumor characterization: a portrait of early-onset breast cancer in Brazil.

Plos One
Carraro, Dirce Maria DM; Koike Folgueira, Maria Aparecida Azevedo MA; Garcia Lisboa, Bianca Cristina BC; Ribeiro Olivieri, Eloisa Helena EH; Vitorino Krepischi, Ana Cristina AC; de Carvalho, Alex Fiorini AF; de Carvalho Mota, Louise Danielle LD; Puga, Renato David RD; do Socorro Maciel, Maria M; Michelli, Rodrigo Augusto Depieri RA; de Lyra, Eduardo Carneiro EC; Grosso, Stana Helena Giorgi SH; Soares, Fernando Augusto FA; Achatz, Maria Isabel Alves de Souza Waddington MI; Brentani, Helena H; Moreira-Filho, Carlos Alberto CA; Brentani, Maria Mitzi MM
Publication Date: 2013

Variant appearance in text: HR: 1370A>G
PubMed Link: 23469205
Variant Present in the following documents:
View BVdb publication page