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Variant : CV160125 (GRCh38/hg38 5q22.1-23.3(chr5:110687442-130103838)x1) Homo sapiens

Symbol: CV160125
Name: GRCh38/hg38 5q22.1-23.3(chr5:110687442-130103838)x1
Condition: See cases [RCV000139235]
Clinical Significance: pathogenic|uncertain significance
Last Evaluated: 08/20/2012
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ADAMTS19   ADAMTS19-AS1   ALDH7A1   AP3S1   APC   ARL14EPL   ATG12   C5orf63   CAMK4   CCDC112   CCDC192   CDO1   CEP120   CHSY3   COMMD10   CSNK1G3   CTXN3   DCP2   DMXL1   DTWD2   EPB41L4A   EPB41L4A-AS1   EPB41L4A-DT   FAM170A   FBN2   FEM1C   FTMT   GRAMD2B   HSD17B4   ISOC1   KCNN2   LINC00992   LINC01170   LINC01184   LINC01957   LINC02039   LINC02147   LINC02148   LINC02200   LINC02201   LINC02208   LINC02214   LINC02215   LINC02216   LINC02240   LINCADL   LMNB1   LMNB1-DT   LOX   LVRN   MARCHF3   MCC   MEGF10   MINAR2   MIR12130   MIR1244-2   MIR4460   MIR4633   MIR5706   NREP   NREP-AS1   PGGT1B   PHAX   PPIC   PRDM6   PRR16   PRRC1   REEP5   SEMA6A   SEMA6A-AS1   SEMA6A-AS2   SLC12A2   SLC25A46   SLC27A6   SNCAIP   SNORA13   SNX2   SNX24   SRFBP1   SRP19   STARD4   STARD4-AS1   TEX43   TICAM2   TMED7   TMED7-TICAM2   TMEM232   TNFAIP8   TRIM36   TSLP   TSSK1B   WDR36   YTHDC2   ZNF474   ZNF608  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000005.10:g.(?_110687442)_(130103838_?)del
NC_000005.9:g.(?_110023143)_(129439531_?)del
NC_000005.8:g.(?_110051042)_(129467430_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh385110,687,442 - 130,103,838CLINVAR
GRCh375110,023,143 - 129,439,531CLINVAR
Build 365110,051,042 - 129,467,430CLINVAR
Cytogenetic Map55q22.1-23.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 9486766
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-01-21
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.