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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000045749	Leiden Muscular Dystrophy (DAG1)	no classification provided	not provided	unknown	curation	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000045749

Leiden Muscular Dystrophy (DAG1)

no classification provided

not provided

unknown

curation

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	not provided	not provided	not provided	not provided	not provided	not provided	curation

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

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	curation	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 14, 2023

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