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DMD c.9580A>C ;(p.I3194L)
Variant ID: X-31224768-T-G
NM_004006.2(
DMD
):c.9580A>C;(p.I3194L)
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:
Sudden Cardiac Death-A New Insight Into Potentially Fatal Genetic Markers.
Frontiers In Medicine
Primorac, Dragan D; Odak, Ljubica L; Perić, Vitorio V; Ćatić, Jasmina J; Šikić, Jozica J; Radeljić, Vjekoslav V; Manola, Šime Š; Nussbaum, Robert R; Vatta, Matteo M; Aradhya, Swaroop S; Sofrenović, Tanja T; Matišić, Vid V; Molnar, Vilim V; Skelin, Andrea A; Mirat, Jure J; Brachmann, Johannes J
Publication Date: 2021
Variant appearance in text: DMD: 9580A>C; Ile3194Leu
PubMed Link:
33829027
Variant Present in the following documents:
Main text
fmed-08-647412.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: DMD: I3194L
PubMed Link:
31819097
Variant Present in the following documents:
41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page