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Variant : CV72575 (GRCh38/hg38 3q13.11-13.31(chr3:104621220-116093884)x3) Homo sapiens

Symbol: CV72575
Name: GRCh38/hg38 3q13.11-13.31(chr3:104621220-116093884)x3
Condition: See cases [RCV000051722]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ABHD10   AC112487.1   ALCAM   ATG3   ATP6V1A   BBX   BOC   BTLA   C3orf52   C3orf85   CBLB   CCDC191   CCDC54   CCDC80   CD200   CD200R1   CD200R1L   CD200R1L-AS1   CD47   CD96   CFAP44   CFAP44-AS1   CIP2A   DPPA2   DPPA4   DRD3   DUBR   DZIP3   GAP43   GCSAM   GRAMD1C   GTPBP8   GUCA1C   HHLA2   IFT57   LINC00488   LINC00635   LINC00636   LINC00882   LINC01205   LINC01215   LINC01990   LINC02042   LINC02044   LOC101929579   LOC108004531   LOC108004532   LOC110120631   LOC110121175   LOC110121187   LOC111255649   LOC112848341   LOC112848343   LOC115995516   LSAMP   MIR4445   MIR4446   MIR4796   MIR567   MIR568   MIR8076   MIR9900   MORC1   MORC1-AS1   MYH15   NAA50   NECTIN3   NECTIN3-AS1   NEPRO   PHLDB2   PLCXD2   PLCXD2-AS1   QTRT2   RETNLB   SIDT1   SLC35A5   SLC9C1   SNORD155   SPICE1   TAGLN3   TBILA   TIGIT   TMPRSS7   TRAT1   USF3   ZBED2   ZBTB20   ZBTB20-AS1   ZBTB20-AS3   ZBTB20-AS4   ZBTB20-AS5   ZDHHC23   ZNF80  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000003.12:g.(?_104621220)_(116093884_?)dup
NC_000003.11:g.(?_104340064)_(115812731_?)dup
NC_000003.10:g.(?_105822754)_(117295421_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh383104,621,220 - 116,093,884CLINVAR
GRCh373104,340,064 - 115,812,731CLINVAR
Build 363105,822,754 - 117,295,421CLINVAR
Cytogenetic Map33q13.11-13.31CLINVAR
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
 
RGD Object Information
RGD ID: 8618735
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-10-15
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.