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Variant : CV74320 (GRCh38/hg38 10q24.32(chr10:101297763-101618190)x3) Homo sapiens

Symbol: CV74320
Name: GRCh38/hg38 10q24.32(chr10:101297763-101618190)x3
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053586]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053586]|See cases [RCV000053586]
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.(?_101297763)_(101618190_?)dup
NC_000010.10:g.(?_103057520)_(103377947_?)dup
NC_000010.9:g.(?_103047510)_(103367937_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh3810101,297,763 - 101,618,190CLINVAR
GRCh3710103,057,520 - 103,377,947CLINVAR
Build 3610103,047,510 - 103,367,937CLINVAR
Cytogenetic Map1010q24.32CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8620509
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.