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Variant : CV73577 (GRCh38/hg38 12p13.33-11.22(chr12:121055-28415184)x1) Homo sapiens

Symbol: CV73577
Name: GRCh38/hg38 12p13.33-11.22(chr12:121055-28415184)x1
Condition: Global developmental delay [RCV000052776]|See cases [RCV000052776]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: A2M   A2M-AS1   A2ML1   ABCC9   ACRBP   ACSM4   ADIPOR2   AEBP2   AICDA   AKAP3   ANO2   APOBEC1   APOLD1   ARHGDIB   ARNTL2   ARNTL2-AS1   ART4   ATF7IP   ATN1   B4GALNT3   BCAT1   BCL2L14   BHLHE41   BORCS5   C12orf4   C12orf57   C12orf60   C12orf71   C12orf77   C1R   C1RL   C1RL-AS1   C1S   C2CD5   C3AR1   CACNA1C   CACNA1C-AS1   CACNA1C-AS2   CACNA1C-AS4   CACNA1C-IT1   CACNA1C-IT2   CACNA1C-IT3   CACNA2D4   CAPZA3   CASC1   CCDC77   CCDC91   CCND2   CCND2-AS1   CD163   CD163L1   CD27   CD27-AS1   CD4   CD69   CD9   CDCA3   CDKN1B   CHD4   CLEC12A   CLEC12A-AS1   CLEC12B   CLEC1A   CLEC1B   CLEC2A   CLEC2B   CLEC2D   CLEC4A   CLEC4C   CLEC4D   CLEC4E   CLEC6A   CLEC7A   CLEC9A   CLECL1   CLSTN3   CMAS   COPS7A   CRACR2A   CREBL2   DCP1B   DDX47   DERA   DPPA3   DUSP16   DYRK4   EIF2S3B   EMG1   EMP1   ENO2   EPS8   ERC1   ERP27   ETFRF1   ETNK1   ETV6   FAM234B   FAM66C   FAM90A1   FBXL14   FGF23   FGF6   FGFR1OP2   FKBP4   FOXJ2   FOXM1   GABARAPL1   GALNT8   GAPDH   GAU1   GDF3   GNB3   GOLT1B   GPR162   GPR19   GPRC5A   GPRC5D   GPRC5D-AS1   GRIN2B   GSG1   GUCY2C   GYS2   H2AJ   H4-16   HEBP1   IAPP   IFFO1   ING4   INTS13   IQSEC3   ITFG2   ITFG2-AS1   ITPR2   KCNA1   KCNA5   KCNA6   KCNJ8   KDM5A   KLHL42   KLRB1   KLRC1   KLRC2   KLRC3   KLRC4   KLRC4-KLRK1   KLRD1   KLRF1   KLRF2   KLRG1   KLRK1   KRAS   LAG3   LDHB   LINC00477   LINC00612   LINC00937   LINC00940   LINC00942   LINC00987   LINC01252   LINC01489   LINC01559   LINC02366   LINC02367   LINC02378   LINC02398   LINC02417   LINC02443   LINC02446   LINC02449   LINC02455   LINC02468   LINC02470   LINC02617   LINC02827   LMNTD1   LMO3   LOH12CR2   LPAR5   LPCAT3   LRMP   LRP6   LRRC23   LRTM2   LTBR   M6PR   MAGOHB   MANSC1   MANSC4   MED21   MFAP5   MGP   MGST1   MIR1244-3   MIR1244-4   MIR141   MIR200C   MIR200CHG   MIR3649   MIR3974   MIR4302   MIR613   MIR614   MIR920   MLF2   MRPL51   MRPS35   NANOG   NANOGNB   NCAPD2   NDUFA9   NECAP1   NINJ2   NINJ2-AS1   NOP2   NRIP2   NTF3   OLR1   P3H3   PARP11   PARP11-AS1   PDE3A   PDE6H   PEX5   PHB2   PHC1   PIANP   PIK3C2G   PLBD1   PLBD1-AS1   PLCZ1   PLEKHA5   PLEKHG6   PPFIBP1   PRB1   PRB2   PRB3   PRB4   PRH1   PRH2   PRMT8   PRR4   PTHLH   PTMS   PTPN6   PTPRO   PYROXD1   PZP   RAD51AP1   RAD52   RASSF8   RASSF8-AS1   RBP5   RECQL   REP15   RERG   RERG-AS1   RERGL   RHNO1   RIMKLB   RNU7-1   SCARNA10   SCARNA11   SCARNA12   SCNN1A   SLC15A5   SLC2A14   SLC2A3   SLC6A12   SLC6A13   SLCO1A2   SLCO1B1   SLCO1B3   SLCO1B3-SLCO1B7   SLCO1B7   SLCO1C1   SMCO2   SMCO3   SMIM10L1   SNORA120   SOX5   SOX5-AS1   SPSB2   SPX   SSPN   ST8SIA1   STK38L   STRAP   STYK1   TAPBPL   TAS2R10   TAS2R13   TAS2R14   TAS2R19   TAS2R20   TAS2R30   TAS2R31   TAS2R42   TAS2R43   TAS2R46   TAS2R50   TAS2R7   TAS2R8   TAS2R9   TEAD4   TEX52   TIGAR   TM7SF3   TMEM52B   TNFRSF1A   TPI1   TSPAN9   TULP3   USP5   VAMP1   VWF   WBP11   WNK1   WNT5B   YBX3   ZNF384   ZNF705A  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000012.12:g.(?_121055)_(28415184_?)del
NC_000012.11:g.(?_282465)_(28568117_?)del
NC_000012.10:g.(?_100482)_(28459384_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh3812121,055 - 28,415,184CLINVAR
GRCh3712282,465 - 28,568,117CLINVAR
Build 3612100,482 - 28,459,384CLINVAR
Cytogenetic Map1212p13.33-11.22CLINVAR
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: 8619749
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.