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Variant : CV73044 (GRCh38/hg38 9p24.3(chr9:203993-500725)x3) Homo sapiens

Symbol: CV73044
Name: GRCh38/hg38 9p24.3(chr9:203993-500725)x3
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052203]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052203]|See cases [RCV000052203]
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: DOCK8   DOCK8-AS1   KANK1  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000009.12:g.(?_203993)_(500725_?)dup
NC_000009.11:g.(?_203993)_(500725_?)dup
NC_000009.10:g.(?_193993)_(490725_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh389203,993 - 500,725CLINVAR
GRCh379203,993 - 500,725CLINVAR
Build 369193,993 - 490,725CLINVAR
Cytogenetic Map99p24.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8619207
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-01-14
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.