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Variant : CV71698 (GRCh38/hg38 8p23.1(chr8:7411297-8273167)x3) Homo sapiens

Symbol: CV71698
Name: GRCh38/hg38 8p23.1(chr8:7411297-8273167)x3
Condition: See cases [RCV000050726]
Clinical Significance: benign
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: DEFB103A   DEFB103B   DEFB104A   DEFB104B   DEFB105A   DEFB105B   DEFB106A   DEFB106B   DEFB107A   DEFB107B   DEFB4A   DEFB4B   FAM66E   FAM85B   MIR548I3   PRR23D1   PRR23D2   SPAG11A   SPAG11B   USP17L3   USP17L8   ZNF705B  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000008.11:g.(?_7411297)_(8273167_?)dup
NC_000008.10:g.(?_7268819)_(8130689_?)dup
NC_000008.9:g.(?_7256229)_(8168099_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh3887,411,297 - 8,273,167CLINVAR
GRCh3787,268,819 - 8,130,689CLINVAR
Build 3687,256,229 - 8,168,099CLINVAR
Cytogenetic Map88p23.1CLINVAR
Age Of Onset: neonatal/infancy
Prevalence: 1-5 / 10 000



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 8617812
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-06-30
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.