DMD c.3603G>A ;(p.K1201=)

Variant ID: X-32472779-C-T

NM_004006.2(DMD):c.3603G>A;(p.K1201=)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Integrative proteogenomic characterization of hepatocellular carcinoma across etiologies and stages.

Nature Communications
Ng, Charlotte K Y CKY; Dazert, Eva E; Boldanova, Tuyana T; Coto-Llerena, Mairene M; Nuciforo, Sandro S; Ercan, Caner C; Suslov, Aleksei A; Meier, Marie-Anne MA; Bock, Thomas T; Schmidt, Alexander A; Ketterer, Sylvia S; Wang, Xueya X; Wieland, Stefan S; Matter, Matthias S MS; Colombi, Marco M; Piscuoglio, Salvatore S; Terracciano, Luigi M LM; Hall, Michael N MN; Heim, Markus H MH
Publication Date: 2022-05-04

Variant appearance in text: DMD: 3603G>A; Lys1201Lys
PubMed Link: 35508466
Variant Present in the following documents:
  • 41467_2022_29960_MOESM12_ESM.xlsx, sheet 1
View BVdb publication page



SCN8A mutation in a child presenting with seizures and developmental delays.

Cold Spring Harbor Molecular Case Studies
Malcolmson, Janet J; Kleyner, Robert R; Tegay, David D; Adams, Whit W; Ward, Kenneth K; Coppinger, Justine J; Nelson, Lesa L; Meisler, Miriam H MH; Wang, Kai K; Robison, Reid R; Lyon, Gholson J GJ
Publication Date: 2016-11

Variant appearance in text: DMD: 3603G>A; Lys1201Lys
PubMed Link: 27900360
Variant Present in the following documents:
  • supp_mcs.a001073_Supplementary_Table_2.xlsx, sheet 2
  • supp_mcs.a001073_Supplementary_Table_1.xlsx, sheet 2
View BVdb publication page



One hundred twenty-one dystrophin point mutations detected from stored DNA samples by combinatorial denaturing high-performance liquid chromatography.

The Journal Of Molecular Diagnostics : Jmd
Torella, Annalaura A; Trimarco, Amelia A; Blanco, Francesca Del Vecchio Fdel V; Cuomo, Anna A; Aurino, Stefania S; Piluso, Giulio G; Minetti, Carlo C; Politano, Luisa L; Nigro, Vincenzo V
Publication Date: 2010-01

Variant appearance in text: DMD: 3603G>A
PubMed Link: 19959795
Variant Present in the following documents:
  • Main text
View BVdb publication page