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Variant : CV73312 (GRCh38/hg38 10p15.1-13(chr10:4802753-16823491)x1) Homo sapiens

Symbol: CV73312
Name: GRCh38/hg38 10p15.1-13(chr10:4802753-16823491)x1
Condition: See cases [RCV000052500]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ACBD7   ACBD7-DCLRE1CP1   AKR1C1   AKR1C2   AKR1C3   AKR1C4   AKR1E2   ANKRD16   ASB13   ATP5F1C   BEND7   C1QL3   CALML3   CALML3-AS1   CALML5   CAMK1D   CCDC3   CDC123   CDNF   CELF2   CELF2-AS1   CELF2-AS2   CELF2-DT   DCLRE1C   DHTKD1   ECHDC3   FAM107B   FAM171A1   FBH1   FRMD4A   GATA3   GATA3-AS1   GDI2   HSPA14   HSPA14   IL15RA   IL2RA   ITGA8   ITIH2   ITIH5   KIN   LASTR   LINC00706   LINC00707   LINC00708   LINC00709   LINC00710   LINC02561   LINC02642   LINC02648   LINC02649   LINC02654   LINC02656   LINC02665   LINC02670   LINC02676   LINC02677   LINC02678   LINP1   LOC101928272   LOC101928453   LOC105376398   LOC106783505   LOC107275222   LOC107275223   LOC107275226   LOC108353819   LOC108903148   LOC108903149   LOC110121355   LOC111589212   LOC111946222   LOC111946223   LOC111946224   LOC111946225   LOC111946234   LOC111946236   LOC111946241   LOC111946242   LOC111946245   LOC111946246   LOC111946251   LOC111946252   LOC116216107   LOC116216108   LOC116216109   LOC116216110   LOC116216111   LOC116216112   MCM10   MEIG1   MINDY3   MIR1265   MIR3155A   MIR3155B   MIR4293   MIR4480   MIR4481   MIR548AK   MIR548Q   NET1   NMT2   NUDT5   OLAH   OPTN   PFKFB3   PHYH   PRKCQ   PRKCQ-AS1   PROSER2   PROSER2-AS1   PRPF18   PTER   RBM17   RPP38   RPP38-DT   RSU1   SEC61A2   SEPHS1   SFMBT2   SNORD129   SUV39H2   TAF3   TASOR2   TRV-TAC3-1   TUBAL3   UCMA   UCN3   UPF2   USP6NL   USP6NL-AS1  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
HGVS Name(s): NC_000010.11:g.(?_4802753)_(16823491_?)del
Human AssemblyChrPosition (strand)Source
GRCh38104,802,753 - 16,823,491CLINVAR
GRCh37104,844,945 - 16,865,490CLINVAR
Build 36104,834,945 - 16,905,496CLINVAR
Cytogenetic Map1010p15.1-13CLINVAR

References - uncurated

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 8619480
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-11-17
Status: ACTIVE


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