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DMD c.6852_6910del ;(p.S2284Rfs*8)
Variant ID: X-31947715-TTTATCCACTGGAGATTTGTCTGCTTGAGCTTATTTTCAAGTTTATCTTGCTCTTCTGGG-T
NM_004006.2(
DMD
):c.6852_6910del;(p.S2284Rfs*8)
This variant was identified in 1 publication
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Assessment of the structural and functional impact of in-frame mutations of the DMD gene, using the tools included in the eDystrophin online database.
Orphanet Journal Of Rare Diseases
Nicolas, Aurélie A; Lucchetti-Miganeh, Céline C; Yaou, Rabah Ben RB; Kaplan, Jean-Claude JC; Chelly, Jamel J; Leturcq, France F; Barloy-Hubler, Frédérique F; Le Rumeur, Elisabeth E
Publication Date: 2012-07-09
Variant appearance in text: DMD: Glu2147_Lys2304del
PubMed Link:
22776072
Variant Present in the following documents:
Main text
1750-1172-7-45.pdf
View BVdb publication page