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Variant : CV73052 (GRCh38/hg38 6q25.3-27(chr6:160328288-170612001)x1) Homo sapiens

Symbol: CV73052
Name: GRCh38/hg38 6q25.3-27(chr6:160328288-170612001)x1
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052212]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052212]|See cases [RCV000052212]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: AFDN   AFDN-DT   AGPAT4   AGPAT4-IT1   C6orf118   C6orf120   CAHM   CCR6   CEP43   DACT2   DLL1   ERMARD   FAM120B   FRMD1   GPR31   KIF25   KIF25-AS1   LINC00242   LINC00473   LINC00574   LINC00602   LINC01558   LINC01615   LINC01624   LINC02487   LINC02519   LINC02538   LINC02544   LPA   LPAL2   MAP3K4   MIR1913   MIR3939   MIR4644   MPC1   PACRG   PACRG-AS1   PACRG-AS2   PACRG-AS3   PDCD2   PDE10A   PHF10   PLG   PRKN   PRR18   PSMB1   QKI   RNASET2   RPS6KA2   RPS6KA2-AS1   RPS6KA2-IT1   SDIM1   SFT2D1   SLC22A3   SMOC2   TBP   TBXT   TCP10L2   TCP10L3   TCTE3   THBS2   TTLL2   UNC93A   WDR27  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000006.12:g.(?_160328288)_(170612001_?)del
NC_000006.11:g.(?_160749320)_(170921089_?)del
NC_000006.10:g.(?_160669310)_(170763014_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh386160,328,288 - 170,612,001CLINVAR
GRCh376160,749,320 - 170,921,089CLINVAR
Build 366160,669,310 - 170,763,014CLINVAR
Cytogenetic Map66q25.3-27CLINVAR
Trait Synonyms: multiple congenital anomalies; unexplained developmental delay/intellectual disability




Additional Information

 
CRRD Object Information
CRRD ID: 8619215
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2017-10-31
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.