DMD c.1483G>A ;(p.V495M)

Variant ID: X-32613993-C-T

NM_004006.2(DMD):c.1483G>A;(p.V495M)

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: V495M; rs754176290
PubMed Link: 36413997
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



Intellectual ability in the duchenne muscular dystrophy and dystrophin gene mutation location.

Balkan Journal Of Medical Genetics : Bjmg
Milic Rasic, V V; Vojinovic, D D; Pesovic, J J; Mijalkovic, G G; Lukic, V V; Mladenovic, J J; Kosac, A A; Novakovic, I I; Maksimovic, N N; Romac, S S; Todorovic, S S; Savic Pavicevic, D D
Publication Date: 2014-12

Variant appearance in text: DMD: V495M
PubMed Link: 25937795
Variant Present in the following documents:
  • Main text
  • bjmg-17-02-25.pdf
View BVdb publication page