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Variant : CV73057 (GRCh38/hg38 9p24.3-24.2(chr9:1998911-2925112)x3) Homo sapiens

Symbol: CV73057
Name: GRCh38/hg38 9p24.3-24.2(chr9:1998911-2925112)x3
Condition: Autism [RCV000052217]|See cases [RCV000052217]
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: KCNV2   PUM3   SMARCA2   VLDLR   VLDLR-AS1  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000009.12:g.(?_1998911)_(2925112_?)dup
NC_000009.11:g.(?_1998911)_(2925112_?)dup
NC_000009.10:g.(?_1988911)_(2915112_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh3891,998,911 - 2,925,112CLINVAR
GRCh3791,998,911 - 2,925,112CLINVAR
Build 3691,988,911 - 2,915,112CLINVAR
Cytogenetic Map99p24.3-24.2CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 8619220
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.