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DMD c.8571T>C ;(p.T2857=)
Variant ID: X-31497197-A-G
NM_004006.2(
DMD
):c.8571T>C;(p.T2857=)
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
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: rs72466570
PubMed Link:
30008175
Variant Present in the following documents:
MGG3-6-749-s004.xlsx, sheet 1
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: 8571T>C; Thr2857=
PubMed Link:
28569743
Variant Present in the following documents:
gim201760x7.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: 8571T>C; T2857T
PubMed Link:
19959795
Variant Present in the following documents:
Main text
View BVdb publication page