GLA c.1182del ;(p.F396Sfs*8)

Variant ID: X-100652905-CT-C

NM_000169.2(GLA):c.1182del;(p.F396Sfs*8)

This variant was identified in 1 publication

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Fabry disease in the Spanish population: observational study with detection of 77 patients.

Orphanet Journal Of Rare Diseases
Vieitez, Irene I; Souto-Rodriguez, Olga O; Fernandez-Mosquera, Lorena L; San Millan, Beatriz B; Teijeira, Susana S; Fernandez-Martin, Julian J; Martinez-Sanchez, Felisa F; Aldamiz-Echevarria, Luis Jose LJ; Lopez-Rodriguez, Monica M; Navarro, Carmen C; Ortolano, Saida S
Publication Date: 2018-04-10

Variant appearance in text: GLA: 1182delA; Phe396Serfs*8
PubMed Link: 29631605
Variant Present in the following documents:
  • Main text
  • 13023_2018_Article_792.pdf
View BVdb publication page