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Variant : CV160351 (GRCh38/hg38 10p12.31-11.22(chr10:19088161-32732293)x3) Homo sapiens

Symbol: CV160351
Name: GRCh38/hg38 10p12.31-11.22(chr10:19088161-32732293)x3
Condition: See cases [RCV000139427]
Clinical Significance: likely pathogenic
Last Evaluated: 08/14/2012
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ABI1   ACBD5   ANKRD26   APBB1IP   ARHGAP12   ARHGAP21   ARMC3   ARMC4   BAMBI   BMI1   C10orf126   C10orf67   CCDC7   COMMD3   COMMD3-BMI1   DNAJC1   EBLN1   ENKUR   EPC1   FAM238A   FAM238B   FAM238C   GAD2   GPR158   GPR158-AS1   JCAD   KIAA1217   KIF5B   LINC00836   LINC00837   LINC01516   LINC01517   LINC02643   LINC02644   LINC02652   LINC02664   LINC02673   LYZL1   LYZL2   MACORIS   MALRD1   MAP3K8   MASTL   MIR1915   MIR1915HG   MIR4675   MIR603   MIR604   MIR7162   MIR8086   MIR938   MKX   MKX-AS1   MLLT10   MPP7   MSRB2   MTPAP   MYO3A   NEBL   NEBL-AS1   OTUD1   PDSS1   PIP4K2A   PLXDC2   PRINS   PRTFDC1   PTCHD3   PTF1A   RAB18   SKIDA1   SNORD130   SPAG6   SVIL   SVIL-AS1   THNSL1   TRN-GTT2-3   WAC   WAC-AS1   YME1L1   ZEB1   ZEB1-AS1   ZNF438  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000010.11:g.(?_19088161)_(32732293_?)dup
NC_000010.10:g.(?_19377090)_(33021221_?)dup
NC_000010.9:g.(?_19417096)_(33061227_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh381019,088,161 - 32,732,293CLINVAR
GRCh371019,377,090 - 33,021,221CLINVAR
Build 361019,417,096 - 33,061,227CLINVAR
Cytogenetic Map1010p12.31-11.22CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9486958
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-03-24
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.