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Variant : CV158057 (GRCh38/hg38 6q25.2-27(chr6:154539655-170714507)x1) Homo sapiens

Symbol: CV158057
Name: GRCh38/hg38 6q25.2-27(chr6:154539655-170714507)x1
Condition: See cases [RCV000137381]
Clinical Significance: pathogenic
Last Evaluated: 02/08/2011
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ACAT2   AFDN   AFDN-DT   AGPAT4   AGPAT4-IT1   AIRN   ARID1B   C6orf118   C6orf120   C6orf99   CAHM   CCR6   CEP43   CLDN20   DACT2   DLL1   DYNLT1   ERMARD   EZR   EZR-AS1   FAM120B   FNDC1   FRMD1   GPR31   GTF2H5   HGC6.3   HPAT5   IGF2R   KIF25   KIF25-AS1   LINC00242   LINC00473   LINC00574   LINC00602   LINC01558   LINC01615   LINC01624   LINC02487   LINC02519   LINC02529   LINC02538   LINC02544   LPA   MAP3K4   MAS1   MIR1202   MIR1273C   MIR1913   MIR3692   MIR3918   MIR3939   MIR4466   MIR4644   MIR7161   MPC1   MRPL18   NOX3   PACRG   PACRG-AS1   PACRG-AS2   PACRG-AS3   PDCD2   PDE10A   PHF10   PLG   PNLDC1   PRKN   PRR18   PSMB1   QKI   RNASET2   RPS6KA2   RPS6KA2-AS1   RPS6KA2-IT1   RSPH3   SCAF8   SDIM1   SERAC1   SFT2D1   SLC22A1   SLC22A2   SLC22A3   SMOC2   SNORA116   SNORA20   SNORA29   SNORD28B   SNX9   SOD2   SOD2-OT1   SYNJ2   SYNJ2-IT1   SYTL3   TAGAP   TBP   TBXT   TCP1   TCTE3   TFB1M   THBS2   TIAM2   TMEM181   TMEM242   TTLL2   TULP4   UNC93A   WDR27   WTAP   ZDHHC14  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000006.12:g.(?_154539655)_(170714507_?)del
NC_000006.11:g.(?_154860789)_(171023595_?)del
NC_000006.10:g.(?_154902481)_(170865520_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh386154,539,655 - 170,714,507CLINVAR
GRCh376154,860,789 - 171,023,595CLINVAR
Build 366154,902,481 - 170,865,520CLINVAR
Cytogenetic Map66q25.2-27CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9484938
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-03-31
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.