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Variant : CV73050 (GRCh38/hg38 6q25.3-27(chr6:159454639-170612001)x1) Homo sapiens

Symbol: CV73050
Name: GRCh38/hg38 6q25.3-27(chr6:159454639-170612001)x1
Condition: See cases [RCV000052209]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by multiple submitters|classified by single submitter|criteria provided, multiple submitters, no conflicts|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   AL596442.1   AL606970.3   AL606970.4   C6orf118   C6orf120   CAHM   CCR6   CEP43   DACT2   DLL1   ERMARD   FAM120B   FRMD1   GPR31   HGC6.3   IGF2R   KIF25   KIF25-AS1   LINC00242   LINC00473   LINC00574   LINC00602   LINC01558   LINC01615   LINC01624   LINC02487   LINC02519   LINC02538   LINC02544   LNCDAT   LPA   MAP3K4   MAS1   MIR1913   MIR3939   MIR4644   MPC1   MRPL18   PACRG   PACRG-AS1   PACRG-AS2   PACRG-AS3   PDCD2   PDE10A   PHF10   PLG   PNLDC1   PRKN   PRR18   PSMB1   QKI   RNASET2   RPS6KA2   RPS6KA2-AS1   RPS6KA2-IT1   SDIM1   SFT2D1   SLC22A1   SLC22A2   SLC22A3   SMOC2   SNORA20   SNORA29   SOD2   SOD2-OT1   TBP   TBXT   TCP1   TCTE3   THBS2   TTLL2   UNC93A   WDR27   WTAP  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
HGVS Name(s): NC_000006.12:g.(?_159454639)_(170612001_?)del
Human AssemblyChrPosition (strand)Source
GRCh386159,454,639 - 170,612,001CLINVAR
GRCh376159,875,671 - 170,921,089CLINVAR
Build 366159,795,661 - 170,763,014CLINVAR
Cytogenetic Map66q25.3-27CLINVAR
Prevalence: mental retardation is caused by aberrant copy numbers of subtelomeric regions in 3-8% of all cases.

References - uncurated

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 8619213
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-06-23
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.