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Variant : CV160436 (GRCh38/hg38 5q31.3-32(chr5:141089988-149530678)x3) Homo sapiens

Symbol: CV160436
Name: GRCh38/hg38 5q31.3-32(chr5:141089988-149530678)x3
Condition: See cases [RCV000139504]
Clinical Significance: pathogenic
Last Evaluated: 09/21/2012
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ABLIM3   ADRB2   AFAP1L1   ARAP3   ARHGAP26   ARHGAP26-AS1   ARHGAP26-IT1   C5orf46   CARMN   CSNK1A1   DELE1   DIAPH1   DIAPH1-AS1   DPYSL3   FBXO38   FCHSD1   FGF1   GNPDA1   GPR151   GRPEL2   GRPEL2-AS1   GRXCR2   HDAC3   HMHB1   HTR4   IL17B   JAKMIP2   JAKMIP2-AS1   KCTD16   LARS1   LINC01844   MARCOL   MIR143   MIR145   MIR5197   MIR584   NDFIP1   NR3C1   PCDH1   PCDH12   PCDHB10   PCDHB11   PCDHB12   PCDHB13   PCDHB14   PCDHB15   PCDHB16   PCDHB2   PCDHB3   PCDHB4   PCDHB5   PCDHB6   PCDHB7   PCDHB8   PCDHB9   PCDHB@   PCDHG@   PCDHGA1   PCDHGA10   PCDHGA11   PCDHGA12   PCDHGA2   PCDHGA3   PCDHGA4   PCDHGA5   PCDHGA6   PCDHGA7   PCDHGA8   PCDHGA9   PCDHGB1   PCDHGB2   PCDHGB3   PCDHGB4   PCDHGB5   PCDHGB6   PCDHGB7   PCDHGC3   PCDHGC4   PCDHGC5   PCYOX1L   PLAC8L1   POU4F3   PPP2R2B   PPP2R2B-IT1   PRELID2   RBM27   RELL2   RNF14   SCGB3A2   SH3RF2   SH3TC2   SH3TC2-DT   SLC25A2   SPINK1   SPINK13   SPINK14   SPINK5   SPINK6   SPINK7   SPINK9   SPRY4   SPRY4-AS1   SPRY4-IT1   STK32A   STK32A-AS1   TAF7   TCERG1   YIPF5  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000005.10:g.(?_141089988)_(149530678_?)dup
NC_000005.9:g.(?_140469572)_(148910241_?)dup
NC_000005.8:g.(?_140449756)_(148890434_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh385141,089,988 - 149,530,678CLINVAR
GRCh375140,469,572 - 148,910,241CLINVAR
Build 365140,449,756 - 148,890,434CLINVAR
Cytogenetic Map55q31.3-32CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 9487035
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-01-07
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.