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Variant : CV74577 (GRCh38/hg38 3q29(chr3:195965316-197625573)x3) Homo sapiens

Symbol: CV74577
Name: GRCh38/hg38 3q29(chr3:195965316-197625573)x3
Condition: See cases [RCV000053854]
Clinical Significance: pathogenic|uncertain significance
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: BDH1   CEP19   DLG1   DLG1-AS1   FBXO45   LINC00885   LINC01063   LINC02012   MELTF   MELTF-AS1   MIR4797   NCBP2   NCBP2-AS1   NCBP2AS2   NRROS   PAK2   PCYT1A   PIGX   PIGZ   RNF168   SENP5   SLC51A   SMCO1   TCTEX1D2   TFRC   TM4SF19   TM4SF19-AS1   TM4SF19-TCTEX1D2   UBXN7   UBXN7-AS1   WDR53   ZDHHC19  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000003.12:g.(?_195965316)_(197625573_?)dup
NC_000003.11:g.(?_195692187)_(197352444_?)dup
NC_000003.10:g.(?_197176584)_(198836841_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh383195,965,316 - 197,625,573CLINVAR
GRCh373195,692,187 - 197,352,444CLINVAR
Build 363197,176,584 - 198,836,841CLINVAR
Cytogenetic Map33q29CLINVAR
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: 8620769
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-08-04
Status: ACTIVE



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