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GRCh37/hg19 9p24.1-22.1(chr9:4992582-19322101) AND Chromosome 9p deletion 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:
RCV002280769.1

Allele description [Variation Report for GRCh37/hg19 9p24.1-22.1(chr9:4992582-19322101)]

GRCh37/hg19 9p24.1-22.1(chr9:4992582-19322101)

Genes:
Variant type:
copy number loss
Cytogenetic location:
9p24.1-22.1
Genomic location:
Chr9: 4992582 - 19322101 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 9p24.1-22.1(chr9:4992582-19322101)

Condition(s)

Name:
Chromosome 9p deletion syndrome
Synonyms:
MONOSOMY 9p SYNDROME; Chromosome 9, monosomy 9p; Monosomy 9p; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0008013; MedGen: C0795830; OMIM: 158170

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV002569036Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital
no assertion criteria provided
Pathogenicunknownclinical testing

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, SCV002569036.1

#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: Sep 3, 2022