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Variant : CV74391 (GRCh38/hg38 12p13.33-13.31(chr12:121055-7272606)x3) Homo sapiens

Symbol: CV74391
Name: GRCh38/hg38 12p13.33-13.31(chr12:121055-7272606)x3
Condition: Global developmental delay [RCV000053663]|See cases [RCV000053663]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ACRBP   ADIPOR2   AKAP3   ANO2   ATN1   B4GALNT3   C12orf4   C12orf57   C1R   C1RL   C1RL-AS1   C1S   CACNA1C   CACNA1C-AS1   CACNA1C-AS2   CACNA1C-AS4   CACNA1C-IT1   CACNA1C-IT2   CACNA1C-IT3   CACNA2D4   CCDC77   CCND2   CCND2-AS1   CD27   CD27-AS1   CD4   CD9   CDCA3   CHD4   CLSTN3   COPS7A   CRACR2A   DCP1B   DYRK4   EMG1   ENO2   ERC1   FBXL14   FGF23   FGF6   FKBP4   FOXM1   GALNT8   GAPDH   GAU1   GNB3   GPR162   IFFO1   ING4   IQSEC3   ITFG2   ITFG2-AS1   KCNA1   KCNA5   KCNA6   KDM5A   LAG3   LINC00940   LINC00942   LINC02417   LINC02443   LINC02455   LINC02827   LPAR5   LPCAT3   LRRC23   LRTM2   LTBR   MIR141   MIR200C   MIR200CHG   MIR3649   MLF2   MRPL51   NCAPD2   NDUFA9   NINJ2   NINJ2-AS1   NOP2   NRIP2   NTF3   P3H3   PARP11   PARP11-AS1   PEX5   PHB2   PIANP   PLEKHG6   PRMT8   PTMS   PTPN6   RAD51AP1   RAD52   RBP5   RHNO1   RNU7-1   SCARNA10   SCARNA11   SCARNA12   SCNN1A   SLC6A12   SLC6A13   SNORA120   SPSB2   TAPBPL   TEAD4   TEX52   TIGAR   TNFRSF1A   TPI1   TSPAN9   TULP3   USP5   VAMP1   VWF   WNK1   WNT5B   ZNF384  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000012.12:g.(?_121055)_(7272606_?)dup
NC_000012.11:g.(?_282465)_(7425202_?)dup
NC_000012.10:g.(?_100482)_(7316469_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh3812121,055 - 7,272,606CLINVAR
GRCh3712282,465 - 7,425,202CLINVAR
Build 3612100,482 - 7,316,469CLINVAR
Cytogenetic Map1212p13.33-13.31CLINVAR
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
 
CRRD Object Information
CRRD ID: 8620581
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-01-07
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.