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GRCh37/hg19 12p13.32(chr12:4458971-4614518)x3 AND Delayed speech and language development

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 4, 2019
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:
RCV000787290.2

Allele description [Variation Report for GRCh37/hg19 12p13.32(chr12:4458971-4614518)x3]

GRCh37/hg19 12p13.32(chr12:4458971-4614518)x3

Genes:
TIGAR:TP53 induced glycolysis regulatory phosphatase [Gene - OMIM - HGNC]
C12orf4:chromosome 12 open reading frame 4 [Gene - OMIM - HGNC]
FGF23:fibroblast growth factor 23 [Gene - OMIM - HGNC]
FGF6:fibroblast growth factor 6 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
12p13.32
Genomic location:
Chr12: 4446242 - 4634699 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 12p13.32(chr12:4458971-4614518)x3
HGVS:
    Observations:
    1

    Condition(s)

    Name:
    Delayed speech and language development
    Identifiers:
    MedGen: C0454644; Human Phenotype Ontology: HP:0000750

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    Assertion and evidence details

    Help
    Submission AccessionSubmitterReview Status
    (Assertion method)    		Clinical Significance
    (Last evaluated)    		OriginMethodCitations
    SCV000926226Institute of Human Genetics, University of Goettingen
    no assertion criteria provided
    		Uncertain significance
    (Apr 4, 2019)     		paternalclinical testing

    Help

    Summary from all submissions

    EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
    not providedpaternalyes1not providednot providednot providednot providedclinical testing

    Details of each submission

    From Institute of Human Genetics, University of Goettingen, SCV000926226.1

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

    Last Updated: Apr 23, 2022