DMD c.473A>G ;(p.N158S)

Variant ID: X-32834642-T-C

NM_004006.2(DMD):c.473A>G;(p.N158S)

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: N158S
PubMed Link: 31819097
Variant Present in the following documents:
  • 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page


Antisense Oligonucleotide Mediated Splice Correction of a Deep Intronic Mutation in OPA1.

Molecular Therapy. Nucleic Acids
Bonifert, Tobias T; Gonzalez Menendez, Irene I; Battke, Florian F; Theurer, Yvonne Y; Synofzik, Matthis M; Schöls, Ludger L; Wissinger, Bernd B
Publication Date: 2016-11-22

Variant appearance in text: DMD: N158S
PubMed Link: 27874857
Variant Present in the following documents:
  • Main text
  • mtna201693a.pdf
View BVdb publication page