DMD c.8163G>T ;(p.K2721N)

Variant ID: X-31645844-C-A

NM_004006.2(DMD):c.8163G>T;(p.K2721N)

This variant was identified in 1 publication

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Next generation sequencing in the identification of a rare genetic disease from preconceptional couple screening to preimplantation genetic diagnosis.

Journal Of Prenatal Medicine
Dello Russo, Claudio C; Di Giacomo, Gianluca G; Mesoraca, Alvaro A; D'Emidio, Laura L; Iaconianni, Paola P; Minutolo, Elisa E; Lippa, Assunta A; Giorlandino, Claudio C
Publication Date: 2014

Variant appearance in text: DMD: 8163G>T; Lys2721Asn
PubMed Link: 25332755
Variant Present in the following documents:
  • Main text
View BVdb publication page