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Variant : CV71975 (GRCh38/hg38 8p23.2-23.1(chr8:4975829-7022841)x3) Homo sapiens

Symbol: CV71975
Name: GRCh38/hg38 8p23.2-23.1(chr8:4975829-7022841)x3
Condition: See cases [RCV000051073]
Clinical Significance: uncertain significance
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: AGPAT5   ANGPT2   CSMD1   DEFA1   DEFA1B   DEFA3   DEFA4   DEFA6   DEFB1   MCPH1   MCPH1-AS1   MIR4659A   MIR4659B   MIR8055   XKR5  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000008.11:g.(?_4975829)_(7022841_?)dup
NC_000008.10:g.(?_4833351)_(6880363_?)dup
NC_000008.9:g.(?_4820759)_(6867773_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh3884,975,829 - 7,022,841CLINVAR
GRCh3784,833,351 - 6,880,363CLINVAR
Build 3684,820,759 - 6,867,773CLINVAR
Cytogenetic Map88p23.2-23.1CLINVAR
Prevalence: mental retardation is caused by aberrant copy numbers of subtelomeric regions in 3-8% of all cases.



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8618119
Created: 2014-05-13
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.