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Variant : CV155270 (GRCh38/hg38 1q24.3-31.1(chr1:171039975-186875957)x3) Homo sapiens

Symbol: CV155270
Name: GRCh38/hg38 1q24.3-31.1(chr1:171039975-186875957)x3
Condition: See cases [RCV000134876]
Clinical Significance: pathogenic
Last Evaluated: 11/30/2010
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ABL2   ACBD6   ANGPTL1   ANKRD45   APOBEC4   ARPC5   ASTN1   AXDND1   BRINP2   C1orf105   C1orf21   C1orf220   CACNA1E   CACYBP   CENPL   CEP350   CLEC20A   COLGALT2   COP1   CRYZL2P-SEC16B   DARS2   DHX9   DNM3   DNM3-IT1   DNM3OS   EDEM3   EEF1AKNMT   FAM163A   FAM20B   FASLG   FMO1   FMO2   FMO3   FMO4   GAS5   GAS5-AS1   GLUL   GPR52   HMCN1   IER5   IVNS1ABP   KIAA0040   KIAA1614   KIAA1614-AS1   KLHL20   LAMC1   LAMC1-AS1   LAMC2   LHX4   LHX4-AS1   LINC00272   LINC01344   LINC01350   LINC01633   LINC01645   LINC01657   LINC01686   LINC01688   LINC01699   LINC01732   LINC01741   LINC02776   LINC02816   MIR12116   MIR1295A   MIR1295B   MIR1843   MIR199A2   MIR214   MIR3120   MIR3121   MIR4424   MIR488   MR1   MROH9   MRPS14   MYOC   MYOCOS   NCF2   NIBAN1   NMNAT2   NPHS2   NPL   ODR4   OVAAL   PACERR   PAPPA2   PDC   PDC-AS1   PIGC   PLA2G4A   PRDX6   PRG4   PRRC2C   PTGS2   QSOX1   RABGAP1L   RABGAP1L-DT   RALGPS2   RASAL2   RASAL2-AS1   RC3H1   RGL1   RGS16   RGS8   RGSL1   RNASEL   RNF2   SCARNA3   SEC16B   SERPINC1   SHCBP1L   SLC9C2   SMG7   SMG7-AS1   SNORA103   SNORD44   SNORD47   SNORD74   SNORD75   SNORD76   SNORD77   SNORD78   SNORD79   SNORD80   SNORD81   SOAT1   STX6   SUCO   SWT1   TDRD5   TEDDM1   TEX35   TEX50   TNFSF18   TNFSF4   TNN   TNR   TOR1AIP1   TOR1AIP2   TOR3A   TPR   TRMT1L   TSEN15   VAMP4   XPR1   ZBTB37   ZNF648  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000001.11:g.(?_171039975)_(186875957_?)dup
NC_000001.10:g.(?_171009116)_(186845089_?)dup
NC_000001.9:g.(?_169275740)_(185111712_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh381171,039,975 - 186,875,957CLINVAR
GRCh371171,009,116 - 186,845,089CLINVAR
Build 361169,275,740 - 185,111,712CLINVAR
Cytogenetic Map11q24.3-31.1CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9482451
Created: 2014-09-09
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.