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Variant : CV155293 (GRCh38/hg38 19p13.3(chr19:421537-2897921)x3) Homo sapiens

Symbol: CV155293
Name: GRCh38/hg38 19p13.3(chr19:421537-2897921)x3
Condition: See cases [RCV000134894]
Clinical Significance: likely pathogenic
Last Evaluated: 12/13/2010
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ABCA7   ABHD17A   ADAMTSL5   ADAT3   AMH   AP3D1   APC2   ARHGAP45   ARID3A   ATP5F1D   ATP8B3   AZU1   BSG   BTBD2   C19orf25   CBARP   CDC34   CFD   CIRBP   CIRBP-AS1   CNN2   CSNK1G2   CSNK1G2-AS1   DAZAP1   DIRAS1   DOT1L   EFNA2   ELANE   FAM174C   FGF22   FSTL3   GADD45B   GAMT   GNG7   GPX4   GRIN3B   GZMM   HCN2   IZUMO4   JSRP1   KISS1R   KLF16   LINC01775   LINGO3   LMNB2   LSM7   MADCAM1   MBD3   MED16   MEX3D   MIDN   MIR1227   MIR1909   MIR3187   MIR4321   MIR4745   MIR6789   MIR7108   MIR7850   MISP   MKNK2   MOB3A   NDUFS7   OAZ1   ODF3L2   ONECUT3   PALM   PCSK4   PEAK3   PLEKHJ1   PLK5   PLPPR3   POLR2E   POLRMT   PRSS57   PRTN3   PTBP1   PWWP3A   R3HDM4   REEP6   REXO1   RNF126   RNU6-2   RNU6-9   RPS15   SBNO2   SCAMP4   SF3A2   SGTA   SHC2   SLC39A3   SPPL2B   STK11   TCF3   THOP1   TIMM13   TMEM259   TMPRSS9   TPGS1   TRF-GAA1-6   TRN-GTT2-6   UQCR11   WDR18   ZNF554   ZNF555   ZNF556  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000019.10:g.(?_421537)_(2897921_?)dup
NC_000019.9:g.(?_421537)_(2897919_?)dup
NC_000019.8:g.(?_372537)_(2848919_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh3819421,537 - 2,897,921CLINVAR
GRCh3719421,537 - 2,897,919CLINVAR
Build 3619372,537 - 2,848,919CLINVAR
Cytogenetic Map1919p13.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9482468
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-03-31
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.