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GRCh37/hg19 15q13.2-13.3(chr15:31073668-32446830) AND Chromosome 15q13.3 microdeletion syndrome

Germline classification:
Pathogenic (1 submission)
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria 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:
RCV002280746.1

Allele description [Variation Report for GRCh37/hg19 15q13.2-13.3(chr15:31073668-32446830)]

GRCh37/hg19 15q13.2-13.3(chr15:31073668-32446830)

Genes:
  • FAN1:FANCD2 and FANCI associated nuclease 1 [Gene - OMIM - HGNC]
  • KLF13:KLF transcription factor 13 [Gene - OMIM - HGNC]
  • OTUD7A:OTU deubiquitinase 7A [Gene - OMIM - HGNC]
  • CHRNA7:cholinergic receptor nicotinic alpha 7 subunit [Gene - OMIM - HGNC]
  • MIR211:microRNA 211 [Gene - OMIM - HGNC]
  • MTMR10:myotubularin related protein 10 [Gene - HGNC]
  • TRPM1:transient receptor potential cation channel subfamily M member 1 [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
15q13.2-13.3
Genomic location:
Chr15: 31073668 - 32446830 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 15q13.2-13.3(chr15:31073668-32446830)

Condition(s)

Name:
Chromosome 15q13.3 microdeletion syndrome
Synonyms:
CHROMOSOME 15q13.3 DELETION SYNDROME; 15q13.3 microdeletion syndrome; 15q13.3 Microdeletion
Identifiers:
MONDO: MONDO:0012774; MedGen: C2677613; Orphanet: 199318; OMIM: 612001

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002569012Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital
no assertion criteria provided
Pathogenicunknownclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital, SCV002569012.1

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

Last Updated: Mar 26, 2023