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Variant : CV161354 (GRCh38/hg38 6p25.3-22.3(chr6:155807-17058414)x3) Homo sapiens

Symbol: CV161354
Name: GRCh38/hg38 6p25.3-22.3(chr6:155807-17058414)x3
Condition: See cases [RCV000140307]
Clinical Significance: pathogenic
Last Evaluated: 04/30/2011
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ADTRP   ATXN1   ATXN1-AS1   BLOC1S5   BLOC1S5-TXNDC5   BMP6   BPHL   C6orf201   C6orf52   CAGE1   CD83   CDYL   CDYL-AS1   DSP   DTNBP1   DUSP22   ECI2   ECI2-DT   EDN1   EEF1E1   EEF1E1-BLOC1S5   ELOVL2   ELOVL2-AS1   ERVFRD-1   EXOC2   F13A1   FAM217A   FAM50B   FARS2   FOXC1   FOXCUT   FOXF2   FOXQ1   GCM2   GCNT2   GFOD1   GMDS   GMDS-DT   GMPR   HIVEP1   HULC   HUS1B   IRF4   JARID2   JARID2-AS1   KU-MEL-3   LINC00518   LINC01011   LINC01108   LINC01394   LINC01600   LINC01622   LINC02521   LINC02522   LINC02525   LINC02530   LINC02533   LINC02543   LOC285766   LY86   LY86-AS1   LYRM4   LYRM4-AS1   MAK   MCUR1   MIR3691   MIR4639   MIR4645   MIR5683   MIR5689   MIR5689HG   MIR6720   MIR7853   MYLIP   MYLK4   NEDD9   NOL7   NQO2   NQO2-AS1   NRN1   OFCC1   PAK1IP1   PHACTR1   PPP1R3G   PRPF4B   PSMG4   PXDC1   RANBP9   RIOK1   RIPK1   RNF182   RPP40   RREB1   SCARNA27   SERPINB1   SERPINB6   SERPINB9   SIRT5   SLC22A23   SLC35B3   SMIM13   SNRNP48   SSR1   SYCP2L   TBC1D7   TFAP2A   TFAP2A-AS1   TFAP2A-AS2   TMEM14B   TMEM14C   TMEM170B   TUBB2A   TUBB2B   TXNDC5   WRNIP1  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000006.12:g.(?_155807)_(17058414_?)dup
NC_000006.11:g.(?_155807)_(17058645_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh386155,807 - 17,058,414CLINVAR
GRCh376155,807 - 17,058,645CLINVAR
Build 366100,807 - 17,166,624CLINVAR
Cytogenetic Map66p25.3-22.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9487837
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2019-11-05
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.