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Variant : CV74448 (GRCh38/hg38 13q11-13.3(chr13:18676442-37656039)x3) Homo sapiens

Symbol: CV74448
Name: GRCh38/hg38 13q11-13.3(chr13:18676442-37656039)x3
Condition: Intellectual functioning disability [RCV000053721]|See cases [RCV000053721]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ALG5   ALOX5AP   AMER2   ATP12A   ATP8A2   B3GLCT   BRCA2   C1QTNF9   C1QTNF9B   CCDC169   CCDC169-SOHLH2   CCNA1   CDK8   CDX2   CENPJ   CRYL1   CSNK1A1L   DCLK1   EEF1AKMT1   EXOSC8   FGF9   FLT1   FLT3   FRY   FRY-AS1   GJA3   GJB2   GJB6   GPR12   GSX1   GTF3A   HMGB1   HSPH1   IFT88   IL17D   KATNAL1   KL   LATS2   LINC00297   LINC00327   LINC00350   LINC00365   LINC00367   LINC00384   LINC00385   LINC00398   LINC00408   LINC00412   LINC00415   LINC00417   LINC00421   LINC00423   LINC00424   LINC00426   LINC00442   LINC00445   LINC00457   LINC00463   LINC00539   LINC00540   LINC00543   LINC00544   LINC00545   LINC00547   LINC00566   LINC00572   LINC00621   LINC01046   LINC01048   LINC01053   LINC01058   LINC01072   LINC02340   LINC02343   LINC02344   LNX2   MAB21L1   MEDAG   MICU2   MIPEP   MIR2276   MIR4499   MPHOSPH8   MRPL57   MTIF3   MTMR6   MTUS2   MTUS2-AS1   N4BP2L1   N4BP2L2   N4BP2L2-IT2   NBEA   NUP58   PABPC3   PAN3   PAN3-AS1   PARP4   PCOTH   PDS5B   PDX1   PLUT   POLR1D   POMP   POSTN   PSPC1   RASL11A   RFC3   RFXAP   RNF17   RNF6   RPL21   RXFP2   SACS   SACS-AS1   SAP18   SERTM1   SGCG   SHISA2   SKA3   SLC46A3   SLC7A1   SMAD9   SNORA27   SNORD102   SOHLH2   SPART   SPART-AS1   SPATA13   SPATA13-AS1   STARD13   STARD13-AS   SUPT20H   TEX26   TEX26-AS1   TNFRSF19   TPTE2   TRN-GTT2-4   TRPC4   TUBA3C   UBE2L5   UBL3   URAD   USP12   USP12-AS1   USP12-AS2   USPL1   WASF3   XPO4   ZAR1L   ZDHHC20   ZMYM2   ZMYM5  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000013.11:g.(?_18676442)_(37656039_?)dup
NC_000013.10:g.(?_19250582)_(38230176_?)dup
NC_000013.9:g.(?_18148582)_(37128176_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh381318,676,442 - 37,656,039CLINVAR
GRCh371319,250,582 - 38,230,176CLINVAR
Build 361318,148,582 - 37,128,176CLINVAR
Cytogenetic Map1313q11-13.3CLINVAR
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: 8620639
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.