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Variant : CV165013 (GRCh38/hg38 5q21.3-23.2(chr5:108308463-125777797)x1) Homo sapiens

Symbol: CV165013
Name: GRCh38/hg38 5q21.3-23.2(chr5:108308463-125777797)x1
Condition: See cases [RCV000143326]
Clinical Significance: pathogenic
Last Evaluated: 10/15/2012
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: AP3S1   APC   ARL14EPL   ATG12   CAMK4   CCDC112   CDO1   CEP120   COMMD10   CSNK1G3   DCP2   DMXL1   DTWD2   EPB41L4A   EPB41L4A-AS1   EPB41L4A-DT   FAM170A   FBXL17   FEM1C   FER   FTMT   HSD17B4   KCNN2   LINC00992   LINC01023   LINC01170   LINC01848   LINC01957   LINC02147   LINC02148   LINC02200   LINC02201   LINC02208   LINC02214   LINC02215   LINC02216   LINC02240   LINCADL   LOX   LVRN   MAN2A1   MCC   MIR12130   MIR1244-2   MIR548F3   MIR5706   NREP   NREP-AS1   PGGT1B   PJA2   PPIC   PRDM6   PRR16   REEP5   SEMA6A   SEMA6A-AS1   SEMA6A-AS2   SLC25A46   SNCAIP   SNORA13   SNX2   SNX24   SRFBP1   SRP19   STARD4   STARD4-AS1   TICAM2   TMED7   TMED7-TICAM2   TMEM232   TNFAIP8   TRIM36   TSLP   TSSK1B   WDR36   YTHDC2   ZNF474   ZNF608  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
HGVS Name(s): NC_000005.10:g.(?_108308463)_(125777797_?)del
Human AssemblyChrPosition (strand)Source
GRCh385108,308,463 - 125,777,797CLINVAR
GRCh375107,644,164 - 125,113,490CLINVAR
Build 365107,672,063 - 125,141,389CLINVAR
Cytogenetic Map55q21.3-23.2CLINVAR

References - uncurated

Additional Information

External Database Links
RGD Object Information
RGD ID: 9490924
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-01-14
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.