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Variant : CV160202 (GRCh38/hg38 5p15.33(chr5:22149-2323943)x3) Homo sapiens

Symbol: CV160202
Name: GRCh38/hg38 5p15.33(chr5:22149-2323943)x3
Condition: See cases [RCV000139303]
Clinical Significance: pathogenic
Last Evaluated: 09/21/2012
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: AHRR   BRD9   CCDC127   CEP72   CLPTM1L   EXOC3   EXOC3-AS1   IRX4   IRX4-AS1   LINC01511   LINC02116   LPCAT1   LRRC14B   MIR4277   MIR4456   MIR4457   MIR4635   MIR6075   MRPL36   NDUFS6   NKD2   PDCD6   PDCD6-AHRR   PLEKHG4B   SDHA   SLC12A7   SLC6A18   SLC6A19   SLC6A3   SLC9A3   SLC9A3-AS1   TERT   TPPP   TRIP13   ZDHHC11   ZDHHC11B  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000005.10:g.(?_22149)_(2323943_?)dup
NC_000005.9:g.(?_22149)_(2324057_?)dup
NC_000005.8:g.(?_75149)_(2377057_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh38522,149 - 2,323,943CLINVAR
GRCh37522,149 - 2,324,057CLINVAR
Build 36575,149 - 2,377,057CLINVAR
Cytogenetic Map55p15.33CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9486834
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-05-19
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.