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DMD c.164A>G ;(p.E55G)
Variant ID: X-32867867-T-C
NM_004006.2(
DMD
):c.164A>G;(p.E55G)
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: DMD: E55G
PubMed Link:
31819097
Variant Present in the following documents:
41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page
Mice lacking dystrophin or alpha sarcoglycan spontaneously develop embryonal rhabdomyosarcoma with cancer-associated p53 mutations and alternatively spliced or mutant Mdm2 transcripts.
The American Journal Of Pathology
Fernandez, Karen K; Serinagaoglu, Yelda Y; Hammond, Sue S; Martin, Laura T LT; Martin, Paul T PT
Publication Date: 2010-01
Variant appearance in text: DMD: E55G
PubMed Link:
20019182
Variant Present in the following documents:
Main text
View BVdb publication page