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Variant : CV153889 (GRCh38/hg38 8q24.13-24.21(chr8:122454392-128513076)x3) Homo sapiens

Symbol: CV153889
Name: GRCh38/hg38 8q24.13-24.21(chr8:122454392-128513076)x3
Condition: See cases [RCV000133620]
Clinical Significance: pathogenic
Last Evaluated: 07/16/2013
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: AC009908.1   AC087667.1   AC090921.1   ANXA13   ATAD2   C8orf76   CASC11   CASC19   CASC21   CASC8   CCAT1   CCAT2   DERL1   FAM83A   FAM83A-AS1   FAM91A1   FBXO32   FER1L6   FER1L6-AS1   FER1L6-AS2   KLHL38   LINC00824   LINC00861   LINC00964   LINC01151   LOC106867047   LOC108228207   LOC108254690   LOC108353813   LOC111365183   LOC113788251   LOC113788252   LOC113788253   LOC113788254   LOC113788255   LOC113788256   LRATD2   MIR1204   MIR1205   MIR1206   MIR1207   MIR1208   MIR4662A   MIR4662B   MIR4663   MIR548AA1   MIR548D1   MIR6844   MTSS1   MYC   NDUFB9   NSMCE2   NTAQ1   PCAT1   PCAT2   POU5F1B   PRNCR1   PVT1   RNF139   RNF139-AS1   SMILR   SQLE   TATDN1   TBC1D31   TMEM65   TMEM75   TRIB1   TRM-CAT1-1   TRMT12   WASHC5   ZHX1   ZHX1-C8orf76   ZHX2   ZNF572  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000008.11:g.(?_122454392)_(128513076_?)dup
NC_000008.10:g.(?_123466631)_(129525322_?)dup
NC_000008.9:g.(?_123535812)_(129594504_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh388122,454,392 - 128,513,076CLINVAR
GRCh378123,466,631 - 129,525,322CLINVAR
Build 368123,535,812 - 129,594,504CLINVAR
Cytogenetic Map88q24.13-24.21CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 9481205
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-11-17
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.