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GLA c.574A>T ;(p.N192Y)
Variant ID: X-100655719-T-A
NM_000169.2(
GLA
):c.574A>T;(p.N192Y)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
An Atypical Cardiac Manifestation of Fabry Disease from a Novel Pathological Variant on the GLA Gene.
Cureus
Sarsam, Luay L; Arouni, Amy A; Mahfood Haddad, Toufik T; Onaiwu, Cherry O CO; Erickson, Christopher C
Publication Date: 2020-03-13
Variant appearance in text: GLA: 574A>T
PubMed Link:
32292674
Variant Present in the following documents:
Main text
cureus-0012-00000007262.pdf
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: GLA: N192Y
PubMed Link:
31819097
Variant Present in the following documents:
41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page