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Variant : CV162485 (GRCh38/hg38 5q14.3-23.1(chr5:92899734-119614119)x1) Homo sapiens

Symbol: CV162485
Name: GRCh38/hg38 5q14.3-23.1(chr5:92899734-119614119)x1
Condition: See cases [RCV000141252]
Clinical Significance: pathogenic
Last Evaluated: 01/09/2013
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: AP3S1   APC   ARL14EPL   ARSK   ATG12   CAMK4   CAST   CCDC112   CDO1   CHD1   COMMD10   DCP2   DMXL1   DTWD2   EFNA5   ELL2   EPB41L4A   EPB41L4A-AS1   EPB41L4A-DT   ERAP1   ERAP2   FAM172A   FAM174A   FAM81B   FBXL17   FEM1C   FER   GIN1   GLRX   GPR150   HSD17B4   KCNN2   KIAA0825   LINC00491   LINC00492   LINC00992   LINC01023   LINC01340   LINC01554   LINC01846   LINC01848   LINC01950   LINC01957   LINC02062   LINC02113   LINC02115   LINC02147   LINC02148   LINC02200   LINC02208   LINC02214   LINC02215   LINC02216   LINC02234   LINCADL   LIX1   LIX1-AS1   LNPEP   LVRN   MACIR   MAN2A1   MCC   MCTP1   MIR12130   MIR1244-2   MIR2277   MIR548F3   MIR548P   MIR5706   MIR583   NR2F1   NR2F1-AS1   NREP   NREP-AS1   NUDT12   PAM   PCSK1   PGGT1B   PJA2   POU5F2   PPIP5K2   REEP5   RFESD   RGMB   RGMB-AS1   RHOBTB3   RIOK2   SEMA6A   SEMA6A-AS1   SEMA6A-AS2   SLC25A46   SLCO4C1   SLCO6A1   SLF1   SNORA13   SPATA9   SRP19   ST8SIA4   STARD4   STARD4-AS1   TICAM2   TMED7   TMED7-TICAM2   TMEM232   TNFAIP8   TRIM36   TSLP   TSSK1B   TTC37   WDR36   YTHDC2  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000005.10:g.(?_92899734)_(119614119_?)del
NC_000005.9:g.(?_92235441)_(118949814_?)del
NC_000005.8:g.(?_92261197)_(118977713_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh38592,899,734 - 119,614,119CLINVAR
GRCh37592,235,441 - 118,949,814CLINVAR
Build 36592,261,197 - 118,977,713CLINVAR
Cytogenetic Map55q14.3-23.1CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 9488779
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.