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Variant : CV156150 (GRCh38/hg38 5q21.3-23.1(chr5:107002209-118025316)x1) Homo sapiens

Symbol: CV156150
Name: GRCh38/hg38 5q21.3-23.1(chr5:107002209-118025316)x1
Condition: See cases [RCV000135699]
Clinical Significance: pathogenic
Last Evaluated: 02/25/2011
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: AP3S1   APC   ARL14EPL   ATG12   CAMK4   CCDC112   CDO1   COMMD10   DCP2   EFNA5   EPB41L4A   EPB41L4A-AS1   EPB41L4A-DT   FBXL17   FEM1C   FER   KCNN2   LINC00992   LINC01023   LINC01848   LINC01950   LINC01957   LINC02147   LINC02200   LINC02214   LINCADL   LVRN   MAN2A1   MCC   MIR12130   MIR548F3   NREP   NREP-AS1   PGGT1B   PJA2   REEP5   SEMA6A   SEMA6A-AS1   SEMA6A-AS2   SLC25A46   SNORA13   SRP19   STARD4   STARD4-AS1   TICAM2   TMED7   TMED7-TICAM2   TMEM232   TRIM36   TSLP   TSSK1B   WDR36   YTHDC2  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000005.10:g.(?_107002209)_(118025316_?)del
NC_000005.9:g.(?_106337910)_(117361011_?)del
NC_000005.8:g.(?_106365809)_(117388910_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh385107,002,209 - 118,025,316CLINVAR
GRCh375106,337,910 - 117,361,011CLINVAR
Build 365106,365,809 - 117,388,910CLINVAR
Cytogenetic Map55q21.3-23.1CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 9483270
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-01-14
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.