GAA c.899C>A ;(p.A300E)

Variant ID: 17-78081639-C-A

NM_000152.3(GAA):c.899C>A;(p.A300E)

This variant was identified in 1 publication

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: 899C>A; Ala300Glu; rs1032949450
PubMed Link: 33297573
Variant Present in the following documents:
  • Main text
  • diagnostics-10-01061.pdf
View BVdb publication page