DMD c.665A>C ;(p.Y222S)

Variant ID: X-32717395-T-G

NM_004006.2(DMD):c.665A>C;(p.Y222S)

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: Y222S
PubMed Link: 31819097
Variant Present in the following documents:
  • 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page


Mechanotransduction, nuclear architecture and epigenetics in Emery Dreifuss Muscular Dystrophy: tous pour un, un pour tous.

Nucleus (Austin, Tex.)
Bianchi, Andrea A; Manti, Pierluigi Giuseppe PG; Lucini, Federica F; Lanzuolo, Chiara C
Publication Date: 2018-01-01

Variant appearance in text: DMD: 665A>C
PubMed Link: 29619865
Variant Present in the following documents:
  • Main text
  • kncl-09-01-1460044.pdf
View BVdb publication page