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Variant : CV74579 (GRCh38/hg38 3q29(chr3:195997494-197662231)x3) Homo sapiens

Symbol: CV74579
Name: GRCh38/hg38 3q29(chr3:195997494-197662231)x3
Condition: See cases [RCV000053856]
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.(?_195997494)_(197662231_?)dup
NC_000003.11:g.(?_195724365)_(197389102_?)dup
NC_000003.10:g.(?_197208762)_(198873499_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh383195,997,494 - 197,662,231CLINVAR
GRCh373195,724,365 - 197,389,102CLINVAR
Build 363197,208,762 - 198,873,499CLINVAR
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: 8620771
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-07-28
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.