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Variant : CV73495 (GRCh38/hg38 2q12.2-12.3(chr2:105828398-108080417)x3) Homo sapiens

Symbol: CV73495
Name: GRCh38/hg38 2q12.2-12.3(chr2:105828398-108080417)x3
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052691]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052691]|See cases [RCV000052691]
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: CD8B2   ECRG4   GACAT1   LINC01593   LINC01789   LINC01885   LINC01886   NCK2   RGPD3   RGPD4   RGPD4-AS1   SLC5A7   ST6GAL2   UXS1  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000002.12:g.(?_105828398)_(108080417_?)dup
NC_000002.11:g.(?_106444854)_(108696873_?)dup
NC_000002.10:g.(?_105811286)_(108063305_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh382105,828,398 - 108,080,417CLINVAR
GRCh372106,444,854 - 108,696,873CLINVAR
Build 362105,811,286 - 108,063,305CLINVAR
Cytogenetic Map22q12.2-12.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8619666
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.