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Variant : CV158110 (GRCh38/hg38 3p25.3-25.2(chr3:9394874-11690612)x1) Homo sapiens

Symbol: CV158110
Name: GRCh38/hg38 3p25.3-25.2(chr3:9394874-11690612)x1
Condition: See cases [RCV000137433]
Clinical Significance: pathogenic
Last Evaluated: 02/08/2011
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ARPC4   ARPC4-TTLL3   ATG7   ATP2B2   ATP2B2-IT2   BRK1   BRPF1   CAMK1   CIDEC   CPNE9   CRELD1   EMC3   EMC3-AS1   FANCD2   FANCD2OS   GHRL   GHRLOS   HRH1   IL17RC   IL17RE   IRAK2   JAGN1   LHFPL4   LINC00606   LINC00852   MIR12127   MIR378B   MIR885   MTMR14   OGG1   PRRT3   PRRT3-AS1   RPUSD3   SEC13   SETD5   SLC6A1   SLC6A1-AS1   SLC6A11   TADA3   TATDN2   THUMPD3-AS1   TTLL3   VGLL4   VHL  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000003.12:g.(?_9394874)_(11690612_?)del
NC_000003.11:g.(?_9436558)_(11732086_?)del
NC_000003.10:g.(?_9411558)_(11707086_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh3839,394,874 - 11,690,612CLINVAR
GRCh3739,436,558 - 11,732,086CLINVAR
Build 3639,411,558 - 11,707,086CLINVAR
Cytogenetic Map33p25.3-25.2CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9484989
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-02-20
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.