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Variant : CV163974 (GRCh38/hg38 9p21.1-13.1(chr9:28975663-38787483)x3) Homo sapiens

Symbol: CV163974
Name: GRCh38/hg38 9p21.1-13.1(chr9:28975663-38787483)x3
Condition: See cases [RCV000142317]
Clinical Significance: likely pathogenic
Last Evaluated: 03/18/2014
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ACO1   ALDH1B1   ANKRD18A   ANKRD18B   APTX   AQP3   AQP7   ARHGEF39   ARID3C   B4GALT1   B4GALT1-AS1   BAG1   C9orf131   C9orf24   CA9   CCDC107   CCIN   CCL19   CCL21   CCL27   CD72   CHMP5   CLTA   CNTFR   CNTFR-AS1   CREB3   DCAF10   DCAF12   DCTN3   DDX58   DNAI1   DNAJA1   DNAJB5   DNAJB5-DT   ENHO   EXOSC3   FAM166B   FAM201A   FAM205A   FAM205C   FAM214B   FAM219A   FAM221B   FAM95C   FANCG   FBXO10   FRMPD1   GALT   GBA2   GLIPR2   GNE   GRHPR   HINT2   HRCT1   IGFBPL1   IL11RA   KIF24   LINC01242   LINC01243   LINC01251   LINC01627   LINGO2   MELK   MIR12117   MIR4475   MIR4476   MIR4540   MIR4667   MIR6851   MIR6852   MIR6853   MSMP   MYORG   NDUFB6   NFX1   NOL6   NPR2   NUDT2   OR13J1   OR2S2   PAX5   PHF24   PIGO   POLR1E   PRSS3   PTENP1-AS   RECK   RGP1   RMRP   RNF38   RPP25L   RUSC2   SHB   SIGMAR1   SIT1   SLC25A51   SMIM27   SMU1   SNORD121A   SNORD121B   SPAAR   SPAG8   SPINK4   STOML2   TAF1L   TESK1   TLN1   TMEM215   TMEM8B   TOMM5   TOPORS   TPM2   TRMT10B   UBAP1   UBAP2   UBE2R2   UBE2R2-AS1   UNC13B   VCP   ZBTB5   ZCCHC7  
Variant Type: copy number gain (SO:0001742)
Evidence: clinical testing
HGVS Name(s): NC_000009.12:g.(?_28975663)_(38787483_?)dup
Human AssemblyChrPosition (strand)Source
GRCh38928,975,663 - 38,787,483CLINVAR
GRCh37928,975,661 - 38,787,480CLINVAR
Build 36928,965,661 - 38,777,480CLINVAR
Cytogenetic Map99p21.1-13.1CLINVAR

References - uncurated

Additional Information

External Database Links
RGD Object Information
RGD ID: 9489836
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-01-21
Status: ACTIVE


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