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Variant : CV155297 (GRCh38/hg38 5q22.3-23.2(chr5:114707561-126507744)x1) Homo sapiens

Symbol: CV155297
Name: GRCh38/hg38 5q22.3-23.2(chr5:114707561-126507744)x1
Condition: See cases [RCV000134895]
Clinical Significance: pathogenic
Last Evaluated: 12/13/2010
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: AP3S1   ARL14EPL   ATG12   CCDC112   CDO1   CEP120   COMMD10   CSNK1G3   DMXL1   DTWD2   FAM170A   FEM1C   FTMT   GRAMD2B   HSD17B4   LINC00992   LINC01170   LINC02039   LINC02147   LINC02148   LINC02201   LINC02208   LINC02214   LINC02215   LINC02216   LINC02240   LINCADL   LOX   LVRN   MIR12130   MIR1244-2   MIR5706   PGGT1B   PPIC   PRDM6   PRR16   SEMA6A   SEMA6A-AS1   SEMA6A-AS2   SNCAIP   SNX2   SNX24   SRFBP1   TICAM2   TMED7   TMED7-TICAM2   TNFAIP8   TRIM36   ZNF474   ZNF608  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
HGVS Name(s): NC_000005.10:g.(?_114707561)_(126507744_?)del
Human AssemblyChrPosition (strand)Source
GRCh385114,707,561 - 126,507,744CLINVAR
GRCh375114,043,258 - 125,843,436CLINVAR
Build 365114,071,157 - 125,871,335CLINVAR
Cytogenetic Map55q22.3-23.2CLINVAR

References - uncurated

Additional Information

External Database Links
RGD Object Information
RGD ID: 9482469
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-01-21
Status: ACTIVE


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