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GRCh37/hg19 12q24.21(chr12:114995645-115376925)x1

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Interpretation:
Pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Feb 28, 2017)
Accession:
VCV000396398.1
Variation ID:
396398
Description:
381.3kb copy number loss
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GRCh37/hg19 12q24.21(chr12:114995645-115376925)x1

Allele ID
383291
Variant type
copy number loss
Variant length
381,281 bp
Cytogenetic location
12q24.21
Genomic location
12: 114995645-115376925 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000012.11:g.(?_114995645)_(115376925_?)del
Protein change
-
Other names
-
Canonical SPDI
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbVar: nssv13641060
dbVar: nsv2772456
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 no assertion criteria provided - RCV000446869.1

Clinical features observed in individuals with this variant

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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
TBX3 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
129 198

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(-)
no assertion criteria provided
Method: clinical testing
See cases
Allele origin: not provided
ARUP Laboratories, Cytogenetics and Genomic Microarray,ARUP Laboratories
Accession: SCV000501886.1
Submitted: (Feb 28, 2017)
Evidence details

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Record last updated Nov 20, 2021