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Variant : CV382097 (GRCh37/hg19 7p21.3-14.2(chr7:11562624-36395416)x3) Homo sapiens

Symbol: CV382097
Name: GRCh37/hg19 7p21.3-14.2(chr7:11562624-36395416)x3
Condition: See cases [RCV000446478]
Clinical Significance: pathogenic
Last Evaluated:
Review Status: no assertion criteria provided
Related Genes: ABCB5   ADCYAP1R1   AGMO   AGR2   AGR3   AHR   ANKMY2   AQP1   ARL4A   AVL9   BBS9   BMPER   BZW2   C7orf31   CBX3   CCDC126   CDCA7L   CHN2   CPVL   CREB5   CRHR2   CRPPA   CYCS   DGKB   DNAH11   DPY19L1   EEPD1   ETV1   EVX1   FAM126A   FAM221A   FERD3L   FKBP14   FKBP9   GARS1   GGCT   GHRHR   GPNMB   GSDME   HDAC9   HERPUD2   HIBADH   HNRNPA2B1   HOTAIRM1   HOTTIP   HOXA1   HOXA10   HOXA11   HOXA11-AS   HOXA13   HOXA2   HOXA3   HOXA4   HOXA5   HOXA6   HOXA7   HOXA9   IGF2BP3   IL6   IL6-AS1   INMT   ITGB8   ITPRID1   JAZF1   KBTBD2   KIAA0895   KLHL7   KLHL7-DT   LINC02860   LRRC72   LSM5   MACC1   MALSU1   MEOX2   MINDY4   MIR148A   MIR196B   MPP6   MTURN   NEUROD6   NFE2L3   NOD1   NPSR1   NPSR1-AS1   NPVF   NPY   NT5C3A   NUP42   OSBPL3   PDE1C   PLEKHA8   PPP1R17   PRPS1L1   PRR15   RAPGEF5   RP9   SCIN   SCRN1   SEPTIN7   SKAP2   SNX10   SNX13   SOSTDC1   SP4   SP8   STEAP1B   STK31   TAX1BP1   TBX20   THSD7A   TMEM106B   TMEM196   TOMM7   TRA2A   TRIL   TSPAN13   TWIST1   TWISTNB   VWDE   WIPF3   ZNRF2  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh37711,562,624 - 36,395,416CLINVAR
Cytogenetic Map77p21.3-14.2CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 12851201
Created: 2017-04-11
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.