All variants in the DMD gene

This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages.
NOTE: for MLPA-detected deletion/duplication variants we use a probe-based HGVS description, for the exon-based description check the "Published as" column.
Information The variants shown are described using the NM_004006.2 transcript reference sequence.

4 entries on 1 page. Showing entries 1 - 4.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
+/. 17i_27i c.(2084_2225)_(3663_3812)del r.? p.? - pathogenic (recessive) g.(32459406_32466696)_(32536192_32563360)del g.(32441289_32448579)_(32518075_32545243)del del ex18-27 - DMD_011827 - - - - Germline/De novo (untested) - - - 0 - Shubha R Phadke
+/. 17i_27i c.(2084_2225)_(3663_3812)del r.? p.? - pathogenic (recessive) g.(32459406_32466696)_(32536192_32563360)del g.(32441289_32448579)_(32518075_32545243)del del ex18-27; c.(2168+1_2169-1)_(3786+1_3787-1)del - DMD_011827 - PubMed: Polavarapu 2019 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/. 17i_27i c.(2084_2225)_(3663_3812)del r.? p.(fs*) - pathogenic (recessive) g.(32459406_32466696)_(32536192_32563360)del g.(32441289_32448579)_(32518075_32545243)del del ex18-27; c.(2168+1_2169-1)_(3786+1_3787-1)del - DMD_011827 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - 0 - Chao Ling
+/. 17i_27i c.(2084_2225)_(3663_3812)del r.? p.? - pathogenic (recessive) g.(32459406_32466696)_(32536192_32563360)del g.(32441289_32448579)_(32518075_32545243)del del ex18-27 - DMD_011827 - PubMed: Vieitez 2017 - - Germline/De novo (untested) - 1/284 cases - 0 - Johan den Dunnen
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