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Variant : CV71594 (GRCh38/hg38 3p26.3(chr3:76052-229025)x1) Homo sapiens

Symbol: CV71594
Name: GRCh38/hg38 3p26.3(chr3:76052-229025)x1
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050547]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050547]|See cases [RCV000050547]
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: CHL1   CHL1-AS2  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000003.12:g.(?_76052)_(229025_?)del
NC_000003.11:g.(?_117735)_(270708_?)del
NC_000003.10:g.(?_92735)_(245708_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh38376,052 - 229,025CLINVAR
GRCh373117,735 - 270,708CLINVAR
Build 36392,735 - 245,708CLINVAR
Cytogenetic Map33p26.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8617680
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-02-11
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.