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Variant : CV164651 (GRCh38/hg38 9p24.3-22.3(chr9:204090-15260600)x1) Homo sapiens

Symbol: CV164651
Name: GRCh38/hg38 9p24.3-22.3(chr9:204090-15260600)x1
Condition: See cases [RCV000142964]
Clinical Significance: pathogenic
Last Evaluated: 09/21/2012
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: AK3   AL513422.1   CD274   CDC37L1   CDC37L1-DT   CER1   DMAC1   DMRT1   DMRT2   DMRT3   DOCK8   DOCK8-AS1   ERMP1   FREM1   GLDC   GLIS3   GLIS3-AS1   IL33   INSL4   INSL6   JAK2   KANK1   KCNV2   KDM4C   KIAA2026   LINC00583   LINC01230   LINC01231   LINC01235   LINC02851   LURAP1L   LURAP1L-AS1   MIR101-2   MIR4665   MLANA   MPDZ   NFIB   PDCD1LG2   PLGRKT   PLPP6   PTPRD   PTPRD-AS1   PTPRD-AS2   PUM3   RANBP6   RCL1   RFX3   RFX3-AS1   RIC1   RLN1   RLN2   SLC1A1   SMARCA2   SNORD137   SPATA6L   TPD52L3   TRH-GTG1-6   TTC39B   TYRP1   UHRF2   VLDLR   VLDLR-AS1   ZDHHC21  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
HGVS Name(s): NC_000009.12:g.(?_204090)_(15260600_?)del
Human AssemblyChrPosition (strand)Source
GRCh389204,090 - 15,260,600CLINVAR
GRCh379204,090 - 15,260,598CLINVAR
Build 369194,090 - 15,250,598CLINVAR
Cytogenetic Map99p24.3-22.3CLINVAR

References - uncurated

Additional Information

External Database Links
RGD Object Information
RGD ID: 9490562
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-06-23
Status: ACTIVE


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