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GLA c.108_109insCTGGC ;(p.A37Lfs*86)
Variant ID: X-100662783-C-CGCCAG
NM_000169.2(
GLA
):c.108_109insCTGGC;(p.A37Lfs*86)
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:
Newborn screening for lysosomal storage disorders in hungary.
Jimd Reports
Wittmann, Judit J; Karg, Eszter E; Turi, Sàndor S; Legnini, Elisa E; Wittmann, Gyula G; Giese, Anne-Katrin AK; Lukas, Jan J; Gölnitz, Uta U; Klingenhäger, Michael M; Bodamer, Olaf O; Mühl, Adolf A; Rolfs, Arndt A
Publication Date: 2012
Variant appearance in text: GLA: 108insCTGGC
PubMed Link:
23430949
Variant Present in the following documents:
Main text
View BVdb publication page