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Variant : CV73131 (GRCh38/hg38 15q11.1-13.1(chr15:19879750-27865713)x3) Homo sapiens

Symbol: CV73131
Name: GRCh38/hg38 15q11.1-13.1(chr15:19879750-27865713)x3
Condition: Global developmental delay [RCV000052305]|See cases [RCV000052305]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ATP10A   CYFIP1   FAM30B   FAM30C   GABRA5   GABRB3   GABRG3   GABRG3-AS1   GOLGA6L1   GOLGA6L2   GOLGA6L22   GOLGA6L6   GOLGA8S   IPW   LINC00929   LINC01193   LINC02203   LINC02250   LINC02346   MAGEL2   MIR1268A   MIR3118-2   MIR3118-3   MIR3118-4   MIR4508   MIR4509-1   MIR4715   MIR5701-1   MIR5701-2   MIR5701-3   MKRN3   NDN   NIPA1   NIPA2   NPAP1   OCA2   OR4M2   OR4N4   POTEB   POTEB2   POTEB3   PWAR1   PWAR4   PWAR5   PWAR6   PWARSN   PWRN1   PWRN2   PWRN3   PWRN4   SNHG14   SNORD107   SNORD108   SNORD109A   SNORD109B   SNORD115-1   SNORD115-10   SNORD115-11   SNORD115-12   SNORD115-13   SNORD115-14   SNORD115-15   SNORD115-16   SNORD115-17   SNORD115-18   SNORD115-19   SNORD115-2   SNORD115-20   SNORD115-21   SNORD115-22   SNORD115-23   SNORD115-24   SNORD115-25   SNORD115-26   SNORD115-27   SNORD115-28   SNORD115-29   SNORD115-3   SNORD115-30   SNORD115-31   SNORD115-32   SNORD115-33   SNORD115-34   SNORD115-35   SNORD115-36   SNORD115-37   SNORD115-38   SNORD115-39   SNORD115-4   SNORD115-40   SNORD115-41   SNORD115-42   SNORD115-43   SNORD115-44   SNORD115-45   SNORD115-46   SNORD115-47   SNORD115-48   SNORD115-5   SNORD115-6   SNORD115-7   SNORD115-8   SNORD115-9   SNORD116-1   SNORD116-10   SNORD116-11   SNORD116-12   SNORD116-13   SNORD116-14   SNORD116-15   SNORD116-16   SNORD116-17   SNORD116-18   SNORD116-19   SNORD116-2   SNORD116-20   SNORD116-21   SNORD116-22   SNORD116-23   SNORD116-24   SNORD116-25   SNORD116-26   SNORD116-27   SNORD116-28   SNORD116-29   SNORD116-3   SNORD116-30   SNORD116-4   SNORD116-5   SNORD116-6   SNORD116-7   SNORD116-8   SNORD116-9   SNORD116@   SNORD64   SNRPN   SNURF   TRE-TTC2-2   TUBGCP5   UBE3A  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000015.10:g.(?_19879750)_(27865713_?)dup
NC_000015.9:g.(?_20085003)_(28178425_?)dup
NC_000015.8:g.(?_18345017)_(25852020_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh381519,879,750 - 27,865,713 (+)CLINVAR
GRCh371520,085,003 - 28,178,425CLINVAR
Build 361518,345,017 - 25,852,020CLINVAR
Cytogenetic Map1515q11.1-13.1CLINVAR
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: 8619298
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2019-10-08
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.