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GLA c.352C>A ;(p.R118S)
Variant ID: X-100658816-G-T
NM_000169.2(
GLA
):c.352C>A;(p.R118S)
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:
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: R118S
PubMed Link:
31819097
Variant Present in the following documents:
41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page
Functional characterisation of alpha-galactosidase a mutations as a basis for a new classification system in fabry disease.
Plos Genetics
Lukas, Jan J; Giese, Anne-Katrin AK; Markoff, Arseni A; Grittner, Ulrike U; Kolodny, Ed E; Mascher, Hermann H; Lackner, Karl J KJ; Meyer, Wolfgang W; Wree, Phillip P; Saviouk, Viatcheslav V; Rolfs, Arndt A
Publication Date: 2013
Variant appearance in text: GLA: R118S
PubMed Link:
23935525
Variant Present in the following documents:
Main text
pgen.1003632.pdf
View BVdb publication page