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Variant : CV155988 (GRCh38/hg38 5q22.1-23.2(chr5:111463016-127193038)x1) Homo sapiens

Symbol: CV155988
Name: GRCh38/hg38 5q22.1-23.2(chr5:111463016-127193038)x1
Condition: See cases [RCV000135549]
Clinical Significance: pathogenic
Last Evaluated: 01/27/2011
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ALDH7A1   AP3S1   APC   ARL14EPL   ATG12   C5orf63   CAMK4   CCDC112   CDO1   CEP120   COMMD10   CSNK1G3   DCP2   DMXL1   DTWD2   EPB41L4A   EPB41L4A-AS1   EPB41L4A-DT   FAM170A   FEM1C   FTMT   GRAMD2B   HSD17B4   KCNN2   LINC00992   LINC01170   LINC01957   LINC02039   LINC02147   LINC02148   LINC02200   LINC02201   LINC02208   LINC02214   LINC02215   LINC02216   LINC02240   LINCADL   LMNB1   LMNB1-DT   LOX   LVRN   MARCHF3   MCC   MIR12130   MIR1244-2   MIR5706   NREP   NREP-AS1   PGGT1B   PHAX   PPIC   PRDM6   PRR16   REEP5   SEMA6A   SEMA6A-AS1   SEMA6A-AS2   SNCAIP   SNORA13   SNX2   SNX24   SRFBP1   SRP19   STARD4   STARD4-AS1   TEX43   TICAM2   TMED7   TMED7-TICAM2   TNFAIP8   TRIM36   TSSK1B   YTHDC2   ZNF474   ZNF608  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
HGVS Name(s): NC_000005.10:g.(?_111463016)_(127193038_?)del
Human AssemblyChrPosition (strand)Source
GRCh385111,463,016 - 127,193,038CLINVAR
GRCh375110,798,714 - 126,528,730CLINVAR
Build 365110,826,613 - 126,556,629CLINVAR
Cytogenetic Map55q22.1-23.2CLINVAR

References - uncurated

Additional Information

External Database Links
RGD Object Information
RGD ID: 9483121
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-01-07
Status: ACTIVE


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