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Variant : CV73314 (GRCh38/hg38 10p12.1-11.23(chr10:27046685-30228891)x1) Homo sapiens

Symbol: CV73314
Name: GRCh38/hg38 10p12.1-11.23(chr10:27046685-30228891)x1
Condition: Global developmental delay [RCV000052503]|See cases [RCV000052503]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ACBD5   ANKRD26   ARMC4   BAMBI   C10orf126   JCAD   LINC00837   LINC01517   LINC02652   LINC02673   LYZL1   MASTL   MIR604   MIR8086   MIR938   MKX   MKX-AS1   MPP7   PTCHD3   RAB18   SNORD130   SVIL   SVIL-AS1   WAC   WAC-AS1   YME1L1  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000010.11:g.(?_27046685)_(30228891_?)del
NC_000010.10:g.(?_27335614)_(30517820_?)del
NC_000010.9:g.(?_27375620)_(30557826_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh381027,046,685 - 30,228,891CLINVAR
GRCh371027,335,614 - 30,517,820CLINVAR
Build 361027,375,620 - 30,557,826CLINVAR
Cytogenetic Map1010p12.1-11.23CLINVAR
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: 8619482
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-03-17
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.