HP c.300T>G ;(p.H100Q)

Variant ID: 16-72092187-T-G

NM_005143.3(HP):c.300T>G;(p.H100Q)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Use of long term molecular dynamics simulation in predicting cancer associated SNPs.

Plos Computational Biology
Kumar, Ambuj A; Purohit, Rituraj R
Publication Date: 2014-04

Variant appearance in text: HP: H100Q
PubMed Link: 24722014
Variant Present in the following documents:
  • Main text
  • pcbi.1003318.pdf
View BVdb publication page



Spectrum and characterisation of BRCA1 and BRCA2 deleterious mutations in high-risk Czech patients with breast and/or ovarian cancer.

Bmc Cancer
Machackova, Eva E; Foretova, Lenka L; Lukesova, Mirka M; Vasickova, Petra P; Navratilova, Marie M; Coene, Ilse I; Pavlu, Hana H; Kosinova, Veronika V; Kuklova, Jitka J; Claes, Kathleen K
Publication Date: 2008-05-20

Variant appearance in text: HP: 300T>G
PubMed Link: 18489799
Variant Present in the following documents:
  • 1471-2407-8-140.pdf
View BVdb publication page