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NM_001165928.3(DAG1):c.(?_-729)_(*2416_?)del AND not provided

Germline classification:
not provided (1 submission)
Last evaluated:
May 13, 2011
Review status:
no classification provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000024454.2

Allele description [Variation Report for NM_001165928.3(DAG1):c.(?_-729)_(*2416_?)del]

NM_001165928.3(DAG1):c.(?_-729)_(*2416_?)del

Genes:
LOC129936758:ATAC-STARR-seq lymphoblastoid silent region 14366 [Gene]
DAG1:dystroglycan 1 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
3p21.31
Genomic location:
Preferred name:
NM_001165928.3(DAG1):c.(?_-729)_(*2416_?)del
HGVS:
  • NC_000003.12:g.(?_49470182)_(49535615_?)del
  • NG_013230.3:g.(?_5051)_(70484_?)del
  • NC_000003.11:g.(?_49507615)_(49573048_?)del
  • NM_001165928.2:c.(?_-729)_(*2416_?)del
  • NM_001165928.3:c.(?_-729)_(*2416_?)del
  • p.0
  • r.0
Links:
Leiden Muscular Dystrophy (DAG1): DAG1_00012; dbVar: nssv7487033; dbVar: nsv1197448

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000045749Leiden Muscular Dystrophy (DAG1)
no classification provided
not providedunknowncuration

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownnot providednot providednot providednot providednot providednot providedcuration

Citations

PubMed

Heterozygous deletion of a 2-Mb region including the dystroglycan gene in a patient with mild myopathy, facial hypotonia, oral-motor dyspraxia and white matter abnormalities.

Frost AR, Böhm SV, Sewduth RN, Josifova D, Ogilvie CM, Izatt L, Roberts RG.

Eur J Hum Genet. 2010 Jul;18(7):852-5. doi: 10.1038/ejhg.2010.28. Epub 2010 Mar 17.

PubMed [citation]
PMID:
20234391
PMCID:
PMC2987357

Details of each submission

From Leiden Muscular Dystrophy (DAG1), SCV000045749.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownnot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 14, 2023