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.

6 entries on 1 page. Showing entries 1 - 6.
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Effect

Exon

DNA 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
+/. _0_44i c.-244_(6382_6538){0} r.0 p.0 - pathogenic (recessive) g.(31986532_32235089)_(33357493_?)del g.(31968415_32216972)_(33339376_?)del c.-244_(6438+1_6439-1)del - DMD_010044 deletion incl. Dp427c PubMed: Piko 2009 - - Germline - - - 0 - Johan den Dunnen
+?/. _0_44i c.-244_(6382_6538){0} r.0? p.0? - likely pathogenic g.(31986532_32235089)_(33357493_?)del g.(31968415_32216972)_(33339376_?)del c.-244_(6438+1_6439-1)del - DMD_010044 - - - - Germline - - - 0 - Martin Cruz
+/. _0_44i c.-244_(6382_6538){0} r.? p.(fs*) - pathogenic (recessive) g.(31986532_32235089)_(33357493_?)del g.(31968415_32216972)_(33339376_?)del del Dp427c-ex44; c.-244_(6438+1_6439-1)del - DMD_010044 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - 0 - Chao Ling
+/. _0_44i c.-244_(6382_6538){0} r.? p.? - pathogenic (recessive) g.(31986532_32235089)_(33357493_?)del g.(31968415_32216972)_(33339376_?)del del exDp427c-44 - DMD_010044 - PubMed: Guo 2015 - - Germline/De novo (untested) - 1/613 cases - 0 - Johan den Dunnen
+/. _0_44i c.-244_(6382_6538){0} r.? p.? - pathogenic (recessive) g.(31986532_32235089)_(33229673_?)del - - - DMD_010044 - PubMed: Luce 2021 - - Germline - - - 0 - Florencia Giliberto
+/. _0_44i c.-244_(6382_6538){0} r.? p.? - pathogenic (recessive) g.(31986532_32235089)_(33229673_?)del - - - DMD_010044 - PubMed: Luce 2021 - - Germline - - - 0 - Florencia Giliberto
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