DMD c.2971G>C ;(p.E991Q)

Variant ID: X-32486806-C-G

NM_004006.2(DMD):c.2971G>C;(p.E991Q)

This variant was identified in 9 publications

View GRCh38 version.




Publications:


Circadian Genes as Exploratory Biomarkers in DMD: Results From Both the mdx Mouse Model and Patients.

Frontiers In Physiology
Rossi, Rachele R; Falzarano, Maria Sofia MS; Osman, Hana H; Armaroli, Annarita A; Scotton, Chiara C; Mantuano, Paola P; Boccanegra, Brigida B; Cappellari, Ornella O; Schwartz, Elena E; Yuryev, Anton A; Mercuri, Eugenio E; Bertini, Enrico E; D'Amico, Adele A; Mora, Marina M; Johansson, Camilla C; Al-Khalili Szigyarto, Cristina C; De Luca, Annamaria A; Ferlini, Alessandra A
Publication Date: 2021

Variant appearance in text: DMD: 2971G>C
PubMed Link: 34305639
Variant Present in the following documents:
  • Main text
  • fphys-12-678974.pdf
View BVdb publication page



REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.

Scientific Reports
Tian, Yuan Y; Pesaran, Tina T; Chamberlin, Adam A; Fenwick, R Bryn RB; Li, Shuwei S; Gau, Chia-Ling CL; Chao, Elizabeth C EC; Lu, Hsiao-Mei HM; Black, Mary Helen MH; Qian, Dajun D
Publication Date: 2019-09-04

Variant appearance in text: DMD: 2971G>C; E991Q
PubMed Link: 31484976
Variant Present in the following documents:
  • 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Genetic basis and outcome in a nationwide study of Finnish patients with hypertrophic cardiomyopathy.

Esc Heart Failure
Jääskeläinen, Pertti P; Vangipurapu, Jagadish J; Raivo, Joose J; Kuulasmaa, Teemu T; Heliö, Tiina T; Aalto-Setälä, Katriina K; Kaartinen, Maija M; Ilveskoski, Erkki E; Vanninen, Sari S; Hämäläinen, Liisa L; Melin, John J; Kokkonen, Jorma J; Nieminen, Markku S MS; , ; Laakso, Markku M; Kuusisto, Johanna J
Publication Date: 2019-04

Variant appearance in text: DMD: 2971G>C; Glu991Gln
PubMed Link: 30775854
Variant Present in the following documents:
  • EHF2-6-436-s005.xlsx, sheet 1
View BVdb publication page



Exome sequencing of 85 Williams-Beuren syndrome cases rules out coding variation as a major contributor to remaining variance in social behavior.

Molecular Genetics & Genomic Medicine
Kopp, Nathan D ND; Parrish, Phoebe C R PCR; Lugo, Michael M; Dougherty, Joseph D JD; Kozel, Beth A BA
Publication Date: 2018-09

Variant appearance in text: rs72468667
PubMed Link: 30008175
Variant Present in the following documents:
  • MGG3-6-749-s004.xlsx, sheet 1
View BVdb publication page



A De Novo FOXP1 Truncating Mutation in a Patient Originally Diagnosed as C Syndrome.

Scientific Reports
Urreizti, Roser R; Damanti, Sarah S; Esteve, Carla C; Franco-Valls, Héctor H; Castilla-Vallmanya, Laura L; Tonda, Raul R; Cormand, Bru B; Vilageliu, Lluïsa L; Opitz, John M JM; Neri, Giovanni G; Grinberg, Daniel D; Balcells, Susana S
Publication Date: 2018-01-12

Variant appearance in text: DMD: 2971G>C; rs72468667
PubMed Link: 29330474
Variant Present in the following documents:
  • Main text
  • 41598_2017_Article_19109.pdf
  • 41598_2017_19109_MOESM1_ESM.pdf
View BVdb publication page



Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S
Publication Date: 2017-10

Variant appearance in text: DMD: 2971G>C; Glu991Gln
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



XomAnnotate: Analysis of Heterogeneous and Complex Exome- A Step towards Translational Medicine.

Plos One
Talukder, Asoke K AK; Ravishankar, Shashidhar S; Sasmal, Krittika K; Gandham, Santhosh S; Prabhukumar, Jyothsna J; Achutharao, Prahalad H PH; Barh, Debmalya D; Blasi, Francesco F
Publication Date: 2015

Variant appearance in text: rs72468667
PubMed Link: 25905921
Variant Present in the following documents:
  • pone.0123569.s008.xls, sheet 2
  • pone.0123569.s008.xls, sheet 11
  • pone.0123569.s008.xls, sheet 6
View BVdb publication page



De novo mutations in moderate or severe intellectual disability.

Plos Genetics
Hamdan, Fadi F FF; Srour, Myriam M; Capo-Chichi, Jose-Mario JM; Daoud, Hussein H; Nassif, Christina C; Patry, Lysanne L; Massicotte, Christine C; Ambalavanan, Amirthagowri A; Spiegelman, Dan D; Diallo, Ousmane O; Henrion, Edouard E; Dionne-Laporte, Alexandre A; Fougerat, Anne A; Pshezhetsky, Alexey V AV; Venkateswaran, Sunita S; Rouleau, Guy A GA; Michaud, Jacques L JL
Publication Date: 2014-10

Variant appearance in text: DMD: E991Q; rs72468667
PubMed Link: 25356899
Variant Present in the following documents:
  • pgen.1004772.s004.xlsx, sheet 18
View BVdb publication page



Integrated analysis of germline and somatic variants in ovarian cancer.

Nature Communications
Kanchi, Krishna L KL; Johnson, Kimberly J KJ; Lu, Charles C; McLellan, Michael D MD; Leiserson, Mark D M MD; Wendl, Michael C MC; Zhang, Qunyuan Q; Koboldt, Daniel C DC; Xie, Mingchao M; Kandoth, Cyriac C; McMichael, Joshua F JF; Wyczalkowski, Matthew A MA; Larson, David E DE; Schmidt, Heather K HK; Miller, Christopher A CA; Fulton, Robert S RS; Spellman, Paul T PT; Mardis, Elaine R ER; Druley, Todd E TE; Graubert, Timothy A TA; Goodfellow, Paul J PJ; Raphael, Benjamin J BJ; Wilson, Richard K RK; Ding, Li L
Publication Date: 2014

Variant appearance in text: DMD: E991Q
PubMed Link: 24448499
Variant Present in the following documents:
  • NIHMS551112-supplement-9.xlsx, sheet 1
View BVdb publication page