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Variant : CV74609 (GRCh38/hg38 3p26.3(chr3:20521-1209209)x1) Homo sapiens

Symbol: CV74609
Name: GRCh38/hg38 3p26.3(chr3:20521-1209209)x1
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053886]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053886]|See cases [RCV000053886]
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-AS1   CHL1-AS2   CNTN6   LINC01266   LINC01986  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000003.12:g.(?_20521)_(1209209_?)del
NC_000003.11:g.(?_62199)_(1250893_?)del
NC_000003.10:g.(?_37199)_(1225893_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh38320,521 - 1,209,209CLINVAR
GRCh37362,199 - 1,250,893CLINVAR
Build 36337,199 - 1,225,893CLINVAR
Cytogenetic Map33p26.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8620801
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.