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.

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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
+/. 9i_79_ c.(960+17577_960+17627)_*2691{0} r.? p.? - pathogenic (recessive) g.(31137060_31137110)_(32698360_32698410)del g.(32680243_32680293)_(31118943_31118993)del del ex10-79 - DMD_038119 1561,3kb deletion PubMed: Nallamilli 2021, Journal: Nallamilli 2021 - - Germline/De novo (untested) - - - 0 - Madhuri Hegde
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