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NM_004415.4(DSP):c.2437-11del AND Hypertrophic cardiomyopathy 2

Germline classification:
not provided (1 submission)
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:
RCV004596074.1

Allele description [Variation Report for NM_004415.4(DSP):c.2437-11del]

NM_004415.4(DSP):c.2437-11del

Gene:
DSP:desmoplakin [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
6p24.3
Genomic location:
Preferred name:
NM_004415.4(DSP):c.2437-11del
HGVS:
  • NC_000006.12:g.7575284del
  • NG_008803.1:g.38648del
  • NM_001008844.3:c.2437-11del
  • NM_001319034.2:c.2437-11del
  • NM_004415.4:c.2437-11delMANE SELECT
  • LRG_423t1:c.2437-11del
  • LRG_423:g.38648del
  • NC_000006.11:g.7575517del
  • NC_000006.11:g.7575517delT
  • NC_000006.12:g.7575274delT
  • NM_004415.2:c.2437-11delT
Links:
dbSNP: rs727502998
NCBI 1000 Genomes Browser:
rs727502998
Molecular consequence:
  • NM_001008844.3:c.2437-11del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001319034.2:c.2437-11del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_004415.4:c.2437-11del - intron variant - [Sequence Ontology: SO:0001627]
Observations:
1

Condition(s)

Name:
Hypertrophic cardiomyopathy 2
Synonyms:
Familial hypertrophic cardiomyopathy 2; TNNT2-Related Familial Hypertrophic Cardiomyopathy
Identifiers:
MONDO: MONDO:0007266; MedGen: C1861864; OMIM: 115195

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005088669Institute of Human Genetics, University of Wuerzburg
no classification provided
not providedunknownclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Institute of Human Genetics, University of Wuerzburg, SCV005088669.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Aug 4, 2024