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Variant : CV157134 (GRCh38/hg38 19q13.32-13.33(chr19:44971420-48257402)x3) Homo sapiens

Symbol: CV157134
Name: GRCh38/hg38 19q13.32-13.33(chr19:44971420-48257402)x3
Condition: See cases [RCV000136578]
Clinical Significance: pathogenic
Last Evaluated: 12/22/2010
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: AC006262.1   AP2S1   ARHGAP35   BBC3   BICRA   BLOC1S3   BSPH1   C5AR1   C5AR2   CABP5   CALM3   CARD8   CARD8-AS1   CCDC61   CCDC8   CCDC9   CKM   CLASRP   CLPTM1   CRX   DACT3   DACT3-AS1   DHX34   DM1-AS   DMPK   DMWD   EHD2   ELSPBP1   EML2   EML2-AS1   ERCC1   ERCC2   EXOC3L2   FBXO46   FKRP   FOSB   FOXA3   GEMIN7   GEMIN7-AS1   GIPR   GNG8   GPR4   HIF3A   IGFL1   IGFL2   IGFL2-AS1   IGFL3   IGFL4   INAFM1   IRF2BP1   KLC3   KPTN   LIG1   LINC01595   MARK4   MEIOSIN   MEIS3   MIR3190   MIR3191   MIR320E   MIR330   MIR6088   MIR642A   MIR642B   MIR769   MYPOP   NANOS2   NAPA   NAPA-AS1   NKPD1   NOP53   NOP53-AS1   NOVA2   NPAS1   OPA3   PGLYRP1   PLA2G4C   PLA2G4C-AS1   PNMA8A   PNMA8B   POLR1G   PPM1N   PPP1R13L   PPP1R37   PPP5C   PPP5D1   PRKD2   PTGIR   QPCTL   RELB   RSPH6A   RTN2   SAE1   SELENOW   SIX5   SLC1A5   SLC8A2   SNAR-A1   SNAR-A12   SNAR-A13   SNAR-A2   SNAR-A3   SNAR-C1   SNAR-C2   SNAR-C3   SNAR-C4   SNAR-C5   SNAR-E   SNORD23   SNRPD2   STRN4   SULT2A1   SYMPK   TMEM160   TPRX1   TRAPPC6A   TRU-TCA1-1   VASP   ZC3H4   ZNF296   ZNF541   ZSWIM9  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000019.10:g.(?_44971420)_(48257402_?)dup
NC_000019.9:g.(?_45474677)_(48760659_?)dup
NC_000019.8:g.(?_50166517)_(53452471_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh381944,971,420 - 48,257,402CLINVAR
GRCh371945,474,677 - 48,760,659CLINVAR
Build 361950,166,517 - 53,452,471CLINVAR
Cytogenetic Map1919q13.32-13.33CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 9484139
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-07-28
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.