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Variant : CV73177 (GRCh38/hg38 15q26.1-26.3(chr15:89679237-101978958)x3) Homo sapiens

Symbol: CV73177
Name: GRCh38/hg38 15q26.1-26.3(chr15:89679237-101978958)x3
Condition: Macrocephaly [RCV000052354]|See cases [RCV000052354]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ADAMTS17   ALDH1A3   ANPEP   AP3S2   ARPIN   ARPIN-AP3S2   ARRDC4   ASB7   BLM   C15orf32   CERS3   CERS3-AS1   CHD2   CHSY1   CIB1   CRTC3   CRTC3-AS1   FAM138E   FAM169B   FAM174B   FES   FURIN   GDPGP1   HDDC3   IDH2   IDH2-DT   IGF1R   IQGAP1   IRAIN   LINC00923   LINC00924   LINC00930   LINC01197   LINC01578   LINC01579   LINC01580   LINC01581   LINC01582   LINC01585   LINC02207   LINC02244   LINC02251   LINC02254   LINC02348   LINC02351   LINS1   LRRC28   LRRK1   LUNAR1   LYSMD4   MAN2A2   MCTP2   MEF2A   MESP1   MESP2   MIR1302-10   MIR1469   MIR3174   MIR3175   MIR4714   MIR5009   MIR5094   MIR6859-3   NGRN   NR2F2   NR2F2-AS1   OR4F15   OR4F4   OR4F6   PCSK6   PCSK6-AS1   PEX11A   PGPEP1L   PIRC76   PLIN1   PRC1   PRC1-AS1   RCCD1   RGMA   SELENOS   SEMA4B   SLCO3A1   SNRPA1   SPATA41   SPATA8   SPATA8-AS1   ST8SIA2   SV2B   SYNM   TARSL2   TM2D3   TTC23   UNC45A   VPS33B   VPS33B-DT   WDR93   ZNF710   ZNF710-AS1   ZNF774  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000015.10:g.(?_89679237)_(101978958_?)dup
NC_000015.9:g.(?_90222468)_(102519161_?)dup
NC_000015.8:g.(?_88023472)_(100336684_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh381589,679,237 - 101,978,958CLINVAR
GRCh371590,222,468 - 102,519,161CLINVAR
Build 361588,023,472 - 100,336,684CLINVAR
Cytogenetic Map1515q26.1-26.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 8619344
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2019-08-06
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.