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Variant : CV72649 (GRCh38/hg38 1p36.21-36.12(chr1:13110797-20670207)x3) Homo sapiens

Symbol: CV72649
Name: GRCh38/hg38 1p36.21-36.12(chr1:13110797-20670207)x3
Condition: Global developmental delay [RCV000051797]|See cases [RCV000051797]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ACTL8   AGMAT   AKR7A2   AKR7A3   AKR7L   ALDH4A1   ARHGEF10L   ARHGEF19   ATP13A2   C1orf195   CAMK2N1   CAPZB   CASP9   CDA   CELA2A   CELA2B   CLCNKA   CLCNKB   CPLANE2   CROCC   CTRC   DDI2   DDOST   DNAJC16   EFHD2   EMC1   EMC1-AS1   EPHA2   FAM131C   FAM43B   FBLIM1   FBXO42   FHAD1   FHAD1-AS1   HNRNPCL2   HNRNPCL4   HSPB7   HTR6   IFFO2   IGSF21   IGSF21-AS1   KAZN   KAZN-AS1   KIF17   KLHDC7A   LINC01141   LINC01654   LINC01757   LINC01772   LINC01783   LINC02783   LRRC38   MFAP2   MICOS10   MICOS10-NBL1   MIR1290   MIR3675   MIR3972   MIR4695   MIR6084   MRTO4   MST1L   MUL1   NBL1   NBPF1   NECAP2   OTUD3   PADI1   PADI2   PADI3   PADI4   PADI6   PAX7   PDPN   PINK1   PINK1-AS   PLA2G2A   PLA2G2C   PLA2G2D   PLA2G2E   PLA2G2F   PLA2G5   PLEKHM2   PRAMEF13   PRAMEF14   PRAMEF15   PRAMEF17   PRAMEF18   PRAMEF19   PRAMEF20   PRAMEF26   PRAMEF33   PRAMEF5   PRAMEF8   PRAMEF9   PRDM2   RCC2   RNF186   RNU1-1   RNU1-2   RNU1-3   RNU1-4   RSC1A1   SCARNA21B   SDHB   SLC25A34   SLC25A34-AS1   SLC66A1   SPATA21   SPEN   SRARP   SZRD1   TAS1R2   TMCO4   TMEM51   TMEM51-AS1   TMEM82   TRE-TTC3-1   TRG-CCC1-2   TRG-CCC5-1   TRN-GTT13-1   TRN-GTT4-1   TRNAG1   TRQ-CTG14-1   UBR4   UBXN10   UBXN10-AS1   UQCRHL   VWA5B1   ZBTB17  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000001.11:g.(?_13110797)_(20670207_?)dup
NC_000001.10:g.(?_13178269)_(20996700_?)dup
NC_000001.9:g.(?_13100856)_(20869287_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh38113,110,797 - 20,670,207CLINVAR
GRCh37113,178,269 - 20,996,700CLINVAR
Build 36113,100,856 - 20,869,287CLINVAR
Cytogenetic Map11p36.21-36.12CLINVAR
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: 8618809
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-01-14
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.