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Variant : CV71857 (GRCh38/hg38 9p24.2(chr9:2267812-2684272)x3) Homo sapiens

Symbol: CV71857
Name: GRCh38/hg38 9p24.2(chr9:2267812-2684272)x3
Condition: Autism spectrum disorders [RCV000050933]|See cases [RCV000050933]
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: VLDLR   VLDLR-AS1  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000009.12:g.(?_2267812)_(2684272_?)dup
NC_000009.11:g.(?_2267812)_(2684272_?)dup
NC_000009.10:g.(?_2257812)_(2674272_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh3892,267,812 - 2,684,272CLINVAR
GRCh3792,267,812 - 2,684,272CLINVAR
Build 3692,257,812 - 2,674,272CLINVAR
Cytogenetic Map99p24.2CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 8617993
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.