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Variant : CV72048 (GRCh38/hg38 7p22.3-14.1(chr7:54185-41875885)x3) Homo sapiens

Symbol: CV72048
Name: GRCh38/hg38 7p22.3-14.1(chr7:54185-41875885)x3
Condition: Global developmental delay [RCV000051159]|See cases [RCV000051159]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ABCB5   ACTB   ADAP1   ADCYAP1R1   AGMO   AGR2   AGR3   AHR   AIMP2   AMPH   AMZ1   ANKMY2   ANKRD61   ANLN   AOAH   AOAH-IT1   AP5Z1   AQP1   ARL4A   AVL9   BBS9   BMPER   BRAT1   BZW2   C1GALT1   C7orf26   C7orf31   C7orf50   CARD11   CARD11-AS1   CBX3   CCDC126   CCZ1   CCZ1B   CDCA7L   CDK13   CHN2   CHN2-AS1   CHST12   COL28A1   COX19   CPVL   CREB5   CRHR2   CRPPA   CRPPA-AS1   CYCS   CYP2W1   CYTH3   DAGLB   DGKB   DNAAF5   DNAH11   DPY19L1   EEPD1   EIF2AK1   EIF3B   ELFN1   ELFN1-AS1   ELMO1   ELMO1-AS1   EPDR1   ETV1   EVX1   EVX1-AS   FAM126A   FAM20C   FAM220A   FAM221A   FBXL18   FERD3L   FKBP14   FKBP9   FOXK1   FSCN1   GARS-DT   GARS1   GET4   GGCT   GHRHR   GLCCI1   GLCCI1-DT   GNA12   GPER1   GPNMB   GPR141   GPR146   GRID2IP   GRIFIN   GSDME   HDAC9   HDAC9-AS1   HERPUD2   HIBADH   HNRNPA2B1   HOTAIRM1   HOTTIP   HOXA-AS2   HOXA-AS3   HOXA1   HOXA10   HOXA10-AS   HOXA11   HOXA11-AS   HOXA13   HOXA2   HOXA3   HOXA4   HOXA5   HOXA6   HOXA7   HOXA9   ICA1   IGF2BP3   IL6   IL6-AS1   INHBA   INHBA-AS1   INMT   INMT-MINDY4   INTS1   IQCE   ITGB8   ITPRID1   JAZF1   JAZF1-AS1   KBTBD2   KDELR2   KIAA0087   KIAA0895   KLHL7   KLHL7-DT   LFNG   LINC00265   LINC00997   LINC01162   LINC01176   LINC01449   LINC01450   LINC02587   LINC02860   LNCRI   LRRC72   LSM5   MACC1   MACC1-AS1   MAD1L1   MAFK   MALSU1   MEOX2   MICALL2   MINDY4   MIOS   MIR1183   MIR1200   MIR1302-6   MIR148A   MIR196B   MIR3146   MIR339   MIR3683   MIR4648   MIR4655   MIR4656   MIR548N   MIR550A1   MIR550A2   MIR550A3   MIR550B1   MIR550B2   MIR589   MIR6836   MIR6874   MMD2   MPLKIP   MPP6   MRM2   MTURN   NDUFA4   NEUROD6   NFE2L3   NME8   NOD1   NPSR1   NPSR1-AS1   NPVF   NPY   NT5C3A   NUDT1   NUP42   NXPH1   OCM   OSBPL3   PAPOLB   PDE1C   PDGFA   PHF14   PLEKHA8   PMS2   POU6F2   POU6F2-AS1   POU6F2-AS2   PPP1R17   PRKAR1B   PRKAR1B-AS1   PRKAR1B-AS2   PRPS1L1   PRR15   PSMG3   PSMG3-AS1   RAC1   RADIL   RALA   RAPGEF5   RBAK   RBAK-RBAKDN   RBAKDN   RNF216   RNF216-IT1   RP9   RPA3   RSPH10B   RSPH10B2   SCIN   SCRN1   SDK1   SEPTIN7   SEPTIN7-AS1   SFRP4   SKAP2   SLC29A4   SNHG26   SNORA114   SNORA20B   SNORA80D   SNORD165   SNORD65C   SNORD93   SNX10   SNX13   SNX8   SOSTDC1   SP4   SP8   STARD3NL   STEAP1B   STK31   SUGCT   SUN1   TARP   TAX1BP1   TBX20   THSD7A   TMEM106B   TMEM184A   TMEM196   TNRC18   TOMM7   TRA2A   TRG   TRG-AS1   TRGC1   TRGC2   TRGJ1   TRGJ2   TRGJP   TRGJP1   TRGJP2   TRGV2   TRGV3   TRGV4   TRGV5   TRGV8   TRGV9   TRIL   TSPAN13   TTYH3   TWIST1   TWISTNB   UMAD1   UNCX   USP42   VPS41   VWDE   WIPF3   WIPI2   YAE1   ZDHHC4   ZFAND2A   ZNF12   ZNF316   ZNF853   ZNRF2  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000007.14:g.(?_54185)_(41875885_?)dup
NC_000007.13:g.(?_54185)_(41915483_?)dup
NC_000007.12:g.(?_149268)_(41882008_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh38754,185 - 41,875,885CLINVAR
GRCh37754,185 - 41,915,483CLINVAR
Build 367149,268 - 41,882,008CLINVAR
Cytogenetic Map77p22.3-14.1CLINVAR
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: 8618199
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2019-11-05
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.