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Variant : CV72398 (GRCh38/hg38 3q11.1-21.1(chr3:93886671-123216683)x1) Homo sapiens

Symbol: CV72398
Name: GRCh38/hg38 3q11.1-21.1(chr3:93886671-123216683)x1
Condition: See cases [RCV000051543]
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   ABI3BP   AC083798.2   AC112487.1   ADGRG7   ADPRH   ALCAM   ARGFX   ARHGAP31   ARHGAP31-AS1   ARL13B   ARL6   ATG3   ATP6V1A   B4GALT4   B4GALT4-AS1   BBX   BOC   BTLA   C3orf52   C3orf85   CASR   CBLB   CCDC191   CCDC54   CCDC58   CCDC80   CD200   CD200R1   CD200R1L   CD200R1L-AS1   CD47   CD80   CD86   CD96   CEP97   CFAP44   CFAP44-AS1   CFAP91   CIP2A   CLDND1   CMSS1   COL8A1   COX17   CPOX   CRYBG3   CSTA   DCBLD2   DHFR2   DPPA2   DPPA4   DRD3   DTX3L   DUBR   DZIP3   EAF2   EPHA6   FAM162A   FBXO40   FILIP1L   FSTL1   GABRR3   GAP43   GCSAM   GOLGB1   GPR15   GPR156   GRAMD1C   GSK3B   GTF2E1   GTPBP8   GUCA1C   HCLS1   HGD   HHLA2   HSPBAP1   IFT57   IGSF11   IGSF11-AS1   ILDR1   IMPG2   IQCB1   KPNA1   LINC00488   LINC00635   LINC00636   LINC00879   LINC00882   LINC00901   LINC00903   LINC01205   LINC01215   LINC01990   LINC02024   LINC02035   LINC02042   LINC02044   LINC02049   LINC02085   LNP1   LRRC58   LSAMP   LSAMP-AS1   MIR198   MIR3921   MIR4445   MIR4446   MIR4447   MIR4796   MIR548AB   MIR567   MIR568   MIR5682   MIR6529   MIR7110   MIR8060   MIR8076   MIR9900   MORC1   MORC1-AS1   MYH15   NAA50   NDUFB4   NECTIN3   NECTIN3-AS1   NEPRO   NFKBIZ   NIT2   NR1I2   NSUN3   NXPE3   OR5AC2   OR5H1   OR5H14   OR5H15   OR5H2   OR5H6   OR5K1   OR5K2   OR5K3   OR5K4   PARP14   PARP15   PARP9   PCNP   PDIA5   PHLDB2   PLA1A   PLCXD2   PLCXD2-AS1   POGLUT1   POLQ   POPDC2   PROS1   QTRT2   RABL3   RETNLB   RIOX2   RPL24   SEC22A   SEMA5B   SENP7   SIDT1   SLC15A2   SLC35A5   SLC49A4   SLC9C1   SNORD155   SPICE1   ST3GAL6   ST3GAL6-AS1   STX19   STXBP5L   TAGLN3   TBC1D23   TBILA   TEX55   TFG   TIGIT   TIMMDC1   TMEM39A   TMEM45A   TMPRSS7   TOMM70   TRAT1   TRMT10C   TUSC7   UPK1B   USF3   WDR5B   ZBED2   ZBTB11   ZBTB11-AS1   ZBTB20   ZBTB20-AS1   ZBTB20-AS3   ZBTB20-AS4   ZBTB20-AS5   ZDHHC23   ZNF80   ZPLD1  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000003.12:g.(?_93886671)_(123216683_?)del
NC_000003.11:g.(?_93605515)_(122935530_?)del
NC_000003.10:g.(?_95088205)_(124418220_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh38393,886,671 - 123,216,683CLINVAR
GRCh37393,605,515 - 122,935,530CLINVAR
Build 36395,088,205 - 124,418,220CLINVAR
Cytogenetic Map33q11.1-21.1CLINVAR
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: 8618558
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-08-04
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.