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Variant : CV156087 (GRCh38/hg38 3p26.1-25.3(chr3:8038727-11240931)x4) Homo sapiens

Symbol: CV156087
Name: GRCh38/hg38 3p26.1-25.3(chr3:8038727-11240931)x4
Condition: See cases [RCV000135641]
Clinical Significance: likely pathogenic
Last Evaluated: 01/27/2011
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ARPC4   ARPC4-TTLL3   ATP2B2   ATP2B2-IT2   BRK1   BRPF1   CAMK1   CAV3   CIDEC   CPNE9   CRELD1   EMC3   EMC3-AS1   FANCD2   FANCD2OS   GHRL   GHRLOS   HRH1   IL17RC   IL17RE   IRAK2   JAGN1   LHFPL4   LINC00312   LINC00606   LINC00852   LMCD1   LMCD1-AS1   MIR12127   MIR378B   MIR885   MTMR14   OGG1   OXTR   PRRT3   PRRT3-AS1   RAD18   RPUSD3   SEC13   SETD5   SLC6A1   SLC6A1-AS1   SLC6A11   SRGAP3   SRGAP3-AS2   SRGAP3-AS3   SRGAP3-AS4   SSUH2   TADA3   TATDN2   THUMPD3   THUMPD3-AS1   TTLL3   VHL  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000003.12:g.(?_8038727)_(11240931_?)dup
NC_000003.11:g.(?_8080414)_(11282617_?)dup
NC_000003.10:g.(?_8055414)_(11257617_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh3838,038,727 - 11,240,931CLINVAR
GRCh3738,080,414 - 11,282,617CLINVAR
Build 3638,055,414 - 11,257,617CLINVAR
Cytogenetic Map33p26.1-25.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9483213
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-05-26
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.