Full data view for gene DMD

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.

5 entries on 1 page. Showing entries 1 - 5.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/. 68 c.9955T>C r.(?) p.(Cys3319Arg) Parent #1 - VUS g.31200874A>G g.31182757A>G - - DMD_000759 - UMD 2376 database - - Germline - - - - - DNA SEQ - - DMD - UMD 2376 database no change in SGC-genes M - France - - - - - 1 Laurence Michel-Calemard
?/. 68 c.9955T>C r.(?) p.(Cys3319Arg) Maternal (inferred) - VUS g.31200874A>G g.31182757A>G - - DMD_000759 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 68 c.9955T>C r.(?) p.(Cys3319Arg) Unknown - pathogenic (recessive) g.31200874A>G g.31182757A>G - - DMD_000759 - PubMed: Toksoy 2019 - rs886044217 Germline - 1/260 cases - - - DNA MLPA, SEQ - - BMD CASE_0170 PubMed: Toksoy 2019 family, several affected, carrier mother M - Turkey - - - - - 1 Güven Toksoy
?/. 68 c.9955T>C r.(?) p.(Cys3319Arg) Unknown - VUS g.31200874A>G g.31182757A>G - - DMD_000759 - PubMed: Ganapathy 2019 ClinVar-RCV000370541.1 rs886044217 Germline - - - - - DNA SEQ-NG - TruSight One panel ? S-4327 PubMed: Ganapathy 2019 - - - India - - - - - 1 Johan den Dunnen
?/. 68 c.9955T>C r.(?) p.(Cys3319Arg) Unknown - VUS g.31200874A>G g.31182757A>G - - DMD_000759 - PubMed: Ozkalayci 2024, Journal: Ozkalayci 2024 - - Germline/De novo (untested) - - - - - DNA MLPA, SEQ - - BMD/DMD - PubMed: Ozkalayci 2024, Journal: Ozkalayci 2024 - M - Turkey - - - - - 1 Johan den Dunnen
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