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Variant : CV74873 (GRCh38/hg38 19q13.32(chr19:45287256-45734078)x3) Homo sapiens

Symbol: CV74873
Name: GRCh38/hg38 19q13.32(chr19:45287256-45734078)x3
Condition: See cases [RCV000054152]
Clinical Significance: uncertain significance
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: CKM   EML2   EML2-AS1   ERCC1   ERCC2   FBXO46   FOSB   GIPR   GPR4   KLC3   MARK4   MEIOSIN   MIR330   MIR6088   MIR642A   MIR642B   OPA3   POLR1G   PPM1N   PPP1R13L   QPCTL   RTN2   SNRPD2   TRU-TCA1-1   VASP  
Variant Type: copy number gain (SO:0001742)
Evidence: clinical testing
HGVS Name(s): NC_000019.10:g.(?_45287256)_(45734078_?)dup
Human AssemblyChrPosition (strand)Source
GRCh381945,287,256 - 45,734,078CLINVAR
GRCh371945,790,514 - 46,237,336CLINVAR
Build 361950,482,354 - 50,929,176CLINVAR
Cytogenetic Map1919q13.32CLINVAR
Prevalence: mental retardation is caused by aberrant copy numbers of subtelomeric regions in 3-8% of all cases.

References - uncurated

Additional Information

External Database Links
RGD Object Information
RGD ID: 8621065
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-07-28
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.