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Variant : CV73048 (GRCh38/hg38 6q25.2-27(chr6:154118058-170602152)x1) Homo sapiens

Symbol: CV73048
Name: GRCh38/hg38 6q25.2-27(chr6:154118058-170602152)x1
Condition: See cases [RCV000052207]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ACAT2   AFDN   AFDN-DT   AGPAT4   AGPAT4-IT1   AIRN   AL009178.2   AL022069.3   AL031121.2   AL109910.1   AL109910.2   AL109924.1   AL109924.2   AL121956.1   AL353747.4   AL355297.3   AL596442.1   AL606970.3   AL606970.4   ARID1B   C6orf118   C6orf120   C6orf99   CAHM   CCR6   CEP43   CLDN20   CNKSR3   DACT2   DLL1   DYNLT1   ERMARD   EZR   EZR-AS1   FAM120B   FNDC1   FRMD1   GPR31   GTF2H5   HGC6.3   IGF2R   IPCEF1   KIF25   KIF25-AS1   LINC00242   LINC00473   LINC00574   LINC00602   LINC01558   LINC01615   LINC01624   LINC02487   LINC02519   LINC02529   LINC02538   LINC02544   LNCDAT   LPA   MAP3K4   MAS1   MIR1202   MIR1273C   MIR1913   MIR3692   MIR3918   MIR3939   MIR4466   MIR4644   MIR7161   MPC1   MRPL18   NOX3   OPRM1   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   SNX9-AS1   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.(?_154118058)_(170602152_?)del
NC_000006.11:g.(?_154439193)_(170911240_?)del
NC_000006.10:g.(?_154480885)_(170753165_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh386154,118,058 - 170,602,152CLINVAR
GRCh376154,439,193 - 170,911,240CLINVAR
Build 366154,480,885 - 170,753,165CLINVAR
Cytogenetic Map66q25.2-27CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8619211
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-06-30
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.