Bibliome.ai browser hg19
Search
About
Stats
FAQ
GLA c.569C>T ;(p.A190V)
Variant ID: X-100655724-G-A
NM_000169.2(
GLA
):c.569C>T;(p.A190V)
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: A190V
PubMed Link:
31819097
Variant Present in the following documents:
41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page
MT-CYB mutations in hypertrophic cardiomyopathy.
Molecular Genetics & Genomic Medicine
Hagen, Christian M CM; Aidt, Frederik H FH; Havndrup, Ole O; Hedley, Paula L PL; Jespersgaard, Cathrine C; Jensen, Morten M; Kanters, Jørgen K JK; Moolman-Smook, Johanna C JC; Møller, Daniel V DV; Bundgaard, Henning H; Christiansen, Michael M
Publication Date: 2013-05
Variant appearance in text: GLA: A190V
PubMed Link:
24498601
Variant Present in the following documents:
Main text
mgg30001-0054.pdf
View BVdb publication page