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Variant : CV72674 (GRCh38/hg38 1p32.3-31.1(chr1:52595352-76767765)x3) Homo sapiens

Symbol: CV72674
Name: GRCh38/hg38 1p32.3-31.1(chr1:52595352-76767765)x3
Condition: Global developmental delay [RCV000051822]|See cases [RCV000051822]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ACADM   ACOT11   AK4   ALG6   ANGPTL3   ANKRD13C   ASB17   ATG4C   BSND   C1orf141   C1orf87   C8A   C8B   CACHD1   CDCP2   COA7   CPT2   CRYZ   CTH   CYB5RL   CYP2J2   CZIB   DAB1   DAB1-AS1   DEPDC1   DEPDC1-AS1   DHCR24   DIO1   DIRAS3   DLEU2L   DMRTB1   DNAJC6   DOCK7   ECHDC2   EFCAB7   ERICH3   ERICH3-AS1   FAM151A   FGGY   FOXD3   FOXD3-AS1   FPGT   FPGT-TNNI3K   FYB2   GADD45A   GLIS1   GNG12   GNG12-AS1   GPX7   HHLA3   HOOK1   HSPB11   IL12RB2   IL23R   INSL5   ITGB3BP   JAK1   JUN   KANK4   L1TD1   LDLRAD1   LEPR   LEPROT   LEXM   LHX8   LINC00466   LINC01135   LINC01358   LINC01359   LINC01360   LINC01707   LINC01739   LINC01748   LINC01753   LINC01755   LINC01758   LINC01767   LINC01771   LINC01788   LINC02238   LINC02567   LINC02777   LINC02784   LINC02791   LINC02796   LRP8   LRRC40   LRRC42   LRRC53   LRRC7   LRRIQ3   MAGOH   MIER1   MIR101-1   MIR12132   MIR1262   MIR186   MIR3116-1   MIR3116-2   MIR3117   MIR3671   MIR4422   MIR4422HG   MIR4711   MIR4781   MIR4794   MIR6068   MROH7   MROH7-TTC4   MRPL37   MSH4   MYSM1   NDC1   NEGR1   NEGR1-IT1   NFIA   NFIA-AS1   NFIA-AS2   OMA1   PARS2   PATJ   PCSK9   PDE4B   PGM1   PLPP3   PODN   PRKAA2   PTGER3   RABGGTB   RAVER2   ROR1   ROR1-AS1   RPE65   SCP2   SERBP1   SGIP1   SHISAL2A   SLC1A7   SLC35D1   SLC44A5   SNORD45A   SNORD45B   SNORD45C   SRSF11   SSBP3   SSBP3-AS1   ST6GALNAC3   TACSTD2   TCEANC2   TCTEX1D1   TM2D1   TMEM59   TMEM61   TNNI3K   TTC22   TTC4   TYW3   UBE2U   USP1   USP24   WDR78   WLS   YIPF1   ZRANB2   ZRANB2-AS1   ZRANB2-AS2   ZYG11A   ZYG11B  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000001.11:g.(?_52595352)_(76767765_?)dup
NC_000001.10:g.(?_53061024)_(77233450_?)dup
NC_000001.9:g.(?_52833612)_(77006038_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh38152,595,352 - 76,767,765CLINVAR
GRCh37153,061,024 - 77,233,450CLINVAR
Build 36152,833,612 - 77,006,038CLINVAR
Cytogenetic Map11p32.3-31.1CLINVAR
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
 
CRRD Object Information
CRRD ID: 8618834
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2019-07-09
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.