Bibliome.ai browser hg19
Search
About
Stats
FAQ
DMD c.9896A>G ;(p.H3299R)
Variant ID: X-31200933-T-C
NM_004006.2(
DMD
):c.9896A>G;(p.H3299R)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.
Scientific Reports
Šimčíková, Daniela D; Heneberg, Petr P
Publication Date: 2019-12-09
Variant appearance in text: DMD: H3299R
PubMed Link:
31819097
Variant Present in the following documents:
41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page
Comprehensive analysis for genetic diagnosis of Dystrophinopathies in Japan.
Orphanet Journal Of Rare Diseases
Okubo, Mariko M; Goto, Kanako K; Komaki, Hirofumi H; Nakamura, Harumasa H; Mori-Yoshimura, Madoka M; Hayashi, Yukiko K YK; Mitsuhashi, Satomi S; Noguchi, Satoru S; Kimura, En E; Nishino, Ichizo I
Publication Date: 2017-08-31
Variant appearance in text: DMD: 9896A>G; His3299Arg
PubMed Link:
28859693
Variant Present in the following documents:
Main text
13023_2017_Article_703.pdf
View BVdb publication page