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GRCh37/hg19 9p23-22.2(chr9:13739630-18023839)x1 AND multiple conditions

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 22, 2018
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:
RCV000681563.2

Allele description [Variation Report for GRCh37/hg19 9p23-22.2(chr9:13739630-18023839)x1]

GRCh37/hg19 9p23-22.2(chr9:13739630-18023839)x1

Genes:
  • FREM1:FRAS1 related extracellular matrix 1 [Gene - OMIM - HGNC]
  • PSIP1:PC4 and SRSF1 interacting protein 1 [Gene - OMIM - HGNC]
  • SH3GL2:SH3 domain containing GRB2 like 2, endophilin A1 [Gene - OMIM - HGNC]
  • BNC2:basonuclin zinc finger protein 2 [Gene - OMIM - HGNC]
  • CNTLN:centlein [Gene - OMIM - HGNC]
  • CER1:cerberus 1, DAN family BMP antagonist [Gene - OMIM - HGNC]
  • CCDC171:coiled-coil domain containing 171 [Gene - HGNC]
  • NFIB:nuclear factor I B [Gene - OMIM - HGNC]
  • SNAPC3:small nuclear RNA activating complex polypeptide 3 [Gene - OMIM - HGNC]
  • TTC39B:tetratricopeptide repeat domain 39B [Gene - OMIM - HGNC]
  • ZDHHC21:zinc finger DHHC-type palmitoyltransferase 21 [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
9p23-22.2
Genomic location:
Chr9: 13739630 - 18023839 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 9p23-22.2(chr9:13739630-18023839)x1
HGVS:
    Observations:
    1

    Condition(s)

    Name:
    Oxycephaly
    Identifiers:
    MedGen: C4551646; Human Phenotype Ontology: HP:0000263
    Name:
    Intellectual disability
    Synonyms:
    Intellectual functioning disability; intellectual disabilities; Intellectual developmental disorder
    Identifiers:
    MONDO: MONDO:0001071; MeSH: D008607; MedGen: C3714756; Human Phenotype Ontology: HP:0001249

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    Assertion and evidence details

    Help
    Submission AccessionSubmitterReview Status
    (Assertion method)    		Clinical Significance
    (Last evaluated)    		OriginMethodCitations
    SCV000809037Department of Human Genetics, University Hospital Magdeburg
    no assertion criteria provided
    		Pathogenic
    (Aug 22, 2018)     		de novoclinical testing

    Help

    Summary from all submissions

    EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
    not providedde novoyes1not providednot providednot providednot providedclinical testing

    Details of each submission

    From Department of Human Genetics, University Hospital Magdeburg, SCV000809037.1

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

    Last Updated: Sep 30, 2023