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Variant : CV74321 (GRCh38/hg38 10q24.32(chr10:101491828-101668176)x3) Homo sapiens

Symbol: CV74321
Name: GRCh38/hg38 10q24.32(chr10:101491828-101668176)x3
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053587]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053587]|See cases [RCV000053587]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: BTRC   DPCD   FBXW4   MIR3158-1   MIR3158-2   POLL  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000010.11:g.(?_101491828)_(101668176_?)dup
NC_000010.10:g.(?_103251585)_(103427933_?)dup
NC_000010.9:g.(?_103241575)_(103417923_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh3810101,491,828 - 101,668,176CLINVAR
GRCh3710103,251,585 - 103,427,933CLINVAR
Build 3610103,241,575 - 103,417,923CLINVAR
Cytogenetic Map1010q24.32CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8620510
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-02-20
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.