HR c.3557A>C ;(p.Q1186P)

Variant ID: 8-21973226-T-G

NM_005144.4(HR):c.3557A>C;(p.Q1186P)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Comprehensive functional genomic analyses link APC somatic mutation and mRNA-miRNA networks to the clinical outcome of stage-III colorectal cancer patients.

Biomedical Journal
Chiang, Sum-Fu SF; Huang, Heng-Hsuan HH; Tsai, Wen-Sy WS; Chin-Ming Tan, Bertrand B; Yang, Chia-Yu CY; Huang, Po-Jung PJ; Yi-Feng Chang, Ian I; Lin, Jiarong J; Lu, Pei-Shan PS; Chin, En E; Liu, Yu-Hao YH; Yu, Jau-Song JS; Chiang, Jy-Ming JM; Hung, Hsin-Yuan HY; You, Jeng-Fu JF; Liu, Hsuan H
Publication Date: 2022-04

Variant appearance in text: HR: Q1186P
PubMed Link: 35550340
Variant Present in the following documents:
  • mmc1.xlsx, sheet 1
View BVdb publication page



Functional characterization of 105 factor H variants associated with aHUS: lessons for variant classification.

Blood
Martín Merinero, Hector H; Zhang, Yuzhou Y; Arjona, Emilia E; Del Angel, Guillermo G; Goodfellow, Renee R; Gomez-Rubio, Elena E; Ji, Rui-Ru RR; Michelena, Malkoa M; Smith, Richard J H RJH; Rodríguez de Córdoba, Santiago S
Publication Date: 2021-12-02

Variant appearance in text: HR: 3557A>C
PubMed Link: 34189567
Variant Present in the following documents:
  • Main text
View BVdb publication page