GAA c.197G>A ;(p.R66Q)

Variant ID: 17-78078582-G-A

NM_000152.3(GAA):c.197G>A;(p.R66Q)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Yield of Rare Variants Detected by Targeted Next-Generation Sequencing in a Cohort of Romanian Index Patients with Hypertrophic Cardiomyopathy.

Diagnostics (Basel, Switzerland)
Micheu, Miruna Mihaela MM; Popa-Fotea, Nicoleta-Monica NM; Oprescu, Nicoleta N; Bogdan, Stefan S; Dan, Monica M; Deaconu, Alexandru A; Dorobantu, Lucian L; Gheorghe-Fronea, Oana O; Greavu, Maria M; Iorgulescu, Corneliu C; Scafa-Udriste, Alexandru A; Ticulescu, Razvan R; Vatasescu, Radu Gabriel RG; Dorobanțu, Maria M
Publication Date: 2020-12-07

Variant appearance in text: GAA: 197G>A; Arg66Gln
PubMed Link: 33297573
Variant Present in the following documents:
  • diagnostics-10-01061.pdf
View BVdb publication page



Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.

Nature Communications
Akhavanfard, Sara S; Padmanabhan, Roshan R; Yehia, Lamis L; Cheng, Feixiong F; Eng, Charis C
Publication Date: 2020-05-05

Variant appearance in text: GAA: 197G>A; R66H
PubMed Link: 32371905
Variant Present in the following documents:
  • 41467_2020_16067_MOESM23_ESM.xlsx, sheet 1
View BVdb publication page



Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports
Šimčíková, Daniela D; Heneberg, Petr P
Publication Date: 2019-12-09

Variant appearance in text: GAA: R66Q
PubMed Link: 31819097
Variant Present in the following documents:
  • 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page