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Variant : CV382547 (GRCh37/hg19 1q23.3-25.3(chr1:161676893-184071723)x1) Homo sapiens

Symbol: CV382547
Name: GRCh37/hg19 1q23.3-25.3(chr1:161676893-184071723)x1
Condition: See cases [RCV000447098]
Clinical Significance: pathogenic
Last Evaluated:
Review Status: no assertion criteria provided
Related Genes: ABL2   ACBD6   ADCY10   ALDH9A1   ANGPTL1   ANKRD45   APOBEC4   ARPC5   ASTN1   ATF6   ATP1B1   AXDND1   BLZF1   BRINP2   C1orf105   C1orf112   C1orf226   CACNA1E   CACYBP   CCDC181   CCDC190   CD247   CENPL   CEP350   COLGALT2   COP1   CREG1   DARS2   DCAF6   DDR2   DHX9   DNM3   DNM3OS   DPT   DUSP12   EEF1AKNMT   F5   FAM163A   FAM20B   FAM78B   FASLG   FCRLA   FCRLB   FMO1   FMO2   FMO3   FMO4   GAS5   GLUL   GORAB   GPA33   GPR161   GPR52   HSD17B7   IER5   ILDR2   KIAA0040   KIAA1614   KIFAP3   KLHL20   LAMC1   LAMC2   LHX4   LMX1A   LRRC52   MAEL   METTL11B   METTL18   MGST3   MIR199A2   MIR214   MIR3120   MPC2   MPZL1   MR1   MROH9   MRPS14   MYOC   NCF2   NME7   NMNAT2   NOS1AP   NPHS2   NPL   NUF2   OLFML2B   PAPPA2   PBX1   PIGC   POGK   POU2F1   PRDX6   PRRC2C   PRRX1   QSOX1   RABGAP1L   RALGPS2   RASAL2   RC3H1   RCSD1   RGL1   RGS16   RGS4   RGS5   RGS8   RGSL1   RNASEL   RXRG   SCYL3   SEC16B   SELE   SELL   SELP   SERPINC1   SFT2D2   SH2D1B   SHCBP1L   SLC19A2   SLC9C2   SMG7   SOAT1   SPATA46   STX6   STYXL2   SUCO   TADA1   TBX19   TDRD5   TEDDM1   TEX35   TIPRL   TMCO1   TNFSF18   TNFSF4   TNN   TNR   TOR1AIP1   TOR1AIP2   TOR3A   TSEN15   UAP1   UCK2   UHMK1   VAMP4   XCL1   XCL2   XPR1   ZBTB37   ZNF648  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh371161,676,893 - 184,071,723CLINVAR
Cytogenetic Map11q23.3-25.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 12851816
Created: 2017-04-11
Species: Homo sapiens
Last Modified: 2020-06-23
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.