DMD c.1823C>T ;(p.A608V)

Variant ID: X-32583988-G-A

NM_004006.2(DMD):c.1823C>T;(p.A608V)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics
Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,
Publication Date: 2022-12-01

Variant appearance in text: DMD: A608V; rs189896732
PubMed Link: 36413997
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



Mutation analysis in a population-based cohort of boys with Duchenne or Becker muscular dystrophy.

Journal Of Child Neurology
Cunniff, Christopher C; Andrews, Jennifer J; Meaney, F John FJ; Mathews, Katherine D KD; Matthews, Dennis D; Ciafaloni, Emma E; Miller, Timothy M TM; Bodensteiner, John B JB; Miller, Lisa A LA; James, Katherine A KA; Druschel, Charlotte M CM; Romitti, Paul A PA; Pandya, Shree S
Publication Date: 2009-04

Variant appearance in text: DMD: 1823C>T
PubMed Link: 19074751
Variant Present in the following documents:
  • Main text
View BVdb publication page