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Variant : CV158517 (GRCh38/hg38 19q13.32(chr19:45387389-46831000)x1) Homo sapiens

Symbol: CV158517
Name: GRCh38/hg38 19q13.32(chr19:45387389-46831000)x1
Condition: See cases [RCV000137832]
Clinical Significance: likely pathogenic
Last Evaluated: 01/13/2012
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: AC006262.1   CALM3   CCDC61   CCDC8   DACT3   DACT3-AS1   DM1-AS   DMPK   DMWD   EML2   EML2-AS1   ERCC1   FBXO46   FKRP   FOSB   FOXA3   GIPR   GNG8   GPR4   HIF3A   IGFL1   IGFL2   IGFL2-AS1   IGFL3   IGFL4   IRF2BP1   MEIOSIN   MIR320E   MIR330   MIR6088   MIR642A   MIR642B   MIR769   MYPOP   NANOS2   NOVA2   OPA3   PGLYRP1   PNMA8A   PNMA8B   POLR1G   PPM1N   PPP1R13L   PPP5C   PPP5D1   PRKD2   PTGIR   QPCTL   RSPH6A   RTN2   SIX5   SLC1A5   SNAR-E   SNRPD2   STRN4   SYMPK   TRU-TCA1-1   VASP  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000019.10:g.(?_45387389)_(46831000_?)del
NC_000019.9:g.(?_45890647)_(47334257_?)del
NC_000019.8:g.(?_50582487)_(52026097_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh381945,387,389 - 46,831,000CLINVAR
GRCh371945,890,647 - 47,334,257CLINVAR
Build 361950,582,487 - 52,026,097CLINVAR
Cytogenetic Map1919q13.32CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 9485384
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.