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DMD c.115A>T ;(p.N39Y)
Variant ID: X-32867916-T-A
NM_004006.2(
DMD
):c.115A>T;(p.N39Y)
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: N39Y
PubMed Link:
31819097
Variant Present in the following documents:
41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page
A novel LMNA mutation identified in a Japanese patient with LMNA-associated congenital muscular dystrophy.
Human Genome Variation
Ishiyama, Akihiko A; Iida, Aritoshi A; Hayashi, Shinichiro S; Komaki, Hirofumi H; Sasaki, Masayuki M; Nonaka, Ikuya I; Noguchi, Satoru S; Nishino, Ichizo I
Publication Date: 2018
Variant appearance in text: DMD: Asn39Tyr
PubMed Link:
30083363
Variant Present in the following documents:
Main text
41439_2018_Article_18.pdf
View BVdb publication page