Full database search - Leiden Muscular Dystrophy pages

When refering to this database please cite Aartsma-Rus et al. (2006). Entries in the Leiden Duchenne muscular dystrophy mutation database: an overview of mutation types and paradoxical cases that confirm the reading-frame rule. Muscle Nerve. 34:135-144.
NOTE: for deletions / duplications go to the DMD database for whole exon changes.

About this overview [Show]

The variants below are all in the DMD database, matching your query. All fields are shown, including patient and pathogenicity information. A '+' in the DNA change field indicates that more variants were found in this patient. Variants reported in a gene database other than DMD, are reported as the gene symbol with the number of reported variants between parenthesis.
Selecting and clicking a specific line will open a detailed view showing all details per patient.

1 public entry
entries per page

Path.

Exon

DNA change

Var_pub_as

RNA change

Protein change

DB-ID

Variant remarks

Variant origin

Reference

Template

Technique

Frequency

RE-site

Disease

Reference

Remarks

Geographic origin

Ethnic origin

Phenotype additional

# reported

Gender

Protein data

-/?

67i

c.9808-4883CT(17_36)

r.(?)

p.(=)

DMD_01207

marker DI671 see http://www.DMD.nl/ca_dmd.html#di671, PIC 0.81

Matsumoto

DNA

SEQ

JdD

Japan

1

The allelic variants listed here are a collection of those we have found in literature and which were submitted directly to the database. When you notice that we have missed allelic variants or when you detect mistakes, please let us know.

Legend: [ DMD full legend ]
Sequence variations are described basically as recommended by the Ad-Hoc Committee for Mutation Nomenclature (AHCMN), with the recently suggested additions (den Dunnen JT and Antonarakis SE [2000], Hum.Mut. 15:7-12); for a summary see Nomenclature. Coding DNA Reference Sequence, with the first base of the Met-codon counted as position 1.
Path.: Variant pathogenicity, in the format Reported/Concluded; '+' indicating the variant is pathogenic, '+?' probably pathogenic, '-' no known pathogenicity, '-?' probably no pathogenicity, '?' effect unknown. Exon: Exon DNA change: DNA change Var_pub_as: Var_pub_as RNA change: RNA change Protein change: Protein change DMD DB-ID: DB-ID Variant remarks: Variant remarks Variant origin: Variant origin Reference: Reference Template: Template Technique: Technique Frequency: Frequency RE-site: RE-site Disease: Disease phenotype Reference: Reference describing the variation, "Submitted:" indicating that the mutation was submitted directly to this database. Remarks: Remarks Geographic origin: Geographic origin Ethnic origin: Ethnic origin of patient Phenotype additional: Phenotype, additional features # reported: Number of times this case has been reported Gender: Patient gender Protein data: Protein data

Leiden Muscular Dystrophy pages

Duchenne Muscular Dystrophy (DMD)