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Variant : CV435203 (GRCh37/hg19 7p21.3-12.1(chr7:11048840-52863626)x3) Homo sapiens

Symbol: CV435203
Name: GRCh37/hg19 7p21.3-12.1(chr7:11048840-52863626)x3
Condition: See cases [RCV000512091]
Clinical Significance: pathogenic
Last Evaluated: 06/16/2014
Review Status: no assertion criteria provided
Related Genes: ABCA13   ABCB5   ADCY1   ADCYAP1R1   AEBP1   AGMO   AGR2   AGR3   AHR   AMPH   ANKMY2   ANLN   AOAH   AQP1   ARL4A   AVL9   BBS9   BLVRA   BMPER   BZW2   C7orf25   C7orf31   C7orf57   C7orf65   C7orf69   CAMK2B   CBX3   CCDC126   CCM2   CDCA7L   CDK13   CHN2   COA1   COBL   CPVL   CREB5   CRHR2   CRPPA   CYCS   DBNL   DDC   DDX56   DGKB   DNAH11   DPY19L1   EEPD1   ELMO1   EPDR1   ETV1   EVX1   FAM126A   FAM221A   FERD3L   FIGNL1   FKBP14   FKBP9   GARS1   GCK   GGCT   GHRHR   GLI3   GPNMB   GPR141   GRB10   GSDME   H2AZ2   HDAC9   HECW1   HECW1-IT1   HERPUD2   HIBADH   HNRNPA2B1   HOTAIRM1   HOTTIP   HOXA1   HOXA10   HOXA11   HOXA11-AS   HOXA13   HOXA2   HOXA3   HOXA4   HOXA5   HOXA6   HOXA7   HOXA9   HUS1   IGF2BP3   IGFBP1   IGFBP3   IKZF1   IL6   IL6-AS1   INHBA   INMT   ITGB8   ITPRID1   JAZF1   KBTBD2   KIAA0895   KLHL7   KLHL7-DT   LINC02860   LRRC72   LSM5   MACC1   MALSU1   MEOX2   MINDY4   MIR148A   MIR196B   MPLKIP   MPP6   MRPL32   MRPS24   MTURN   MYL7   MYO1G   NACAD   NEUROD6   NFE2L3   NME8   NOD1   NPC1L1   NPSR1   NPSR1-AS1   NPVF   NPY   NT5C3A   NUDCD3   NUP42   OGDH   OSBPL3   PDE1C   PGAM2   PHF14   PKD1L1   PLEKHA8   POLD2   POLM   POU6F2   PPIA   PPP1R17   PRPS1L1   PRR15   PSMA2   PURB   RALA   RAMP3   RAPGEF5   RP9   SCIN   SCRN1   SEPTIN7   SFRP4   SKAP2   SNHG15   SNORA5C   SNX10   SNX13   SOSTDC1   SP4   SP8   SPATA48   SPDYE1   STARD3NL   STEAP1B   STK17A   STK31   SUGCT   SUN3   TARP   TAX1BP1   TBRG4   TBX20   THSD7A   TMED4   TMEM106B   TMEM196   TNS3   TOMM7   TRA2A   TRIL   TSPAN13   TWIST1   TWISTNB   UBE2D4   UPP1   URGCP   VPS41   VWC2   VWDE   WIPF3   YAE1   YKT6   ZMIZ2   ZNRF2   ZPBP  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh37711,048,840 - 52,863,626CLINVAR
Cytogenetic Map77p21.3-12.1CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 13445059
Created: 2017-11-07
Species: Homo sapiens
Last Modified: 2019-12-03
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.