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Variant : CV72175 (GRCh38/hg38 13q12.12(chr13:22992623-24336746)x3) Homo sapiens

Symbol: CV72175
Name: GRCh38/hg38 13q12.12(chr13:22992623-24336746)x3
Condition: Autism [RCV000051309]|See cases [RCV000051309]
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: C1QTNF9   C1QTNF9B   LINC00327   LINC00566   MIPEP   MIR2276   PCOTH   SACS   SACS-AS1   SGCG   SPATA13   SPATA13-AS1   TNFRSF19  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000013.11:g.(?_22992623)_(24336746_?)dup
NC_000013.10:g.(?_23566762)_(24910884_?)dup
NC_000013.9:g.(?_22464762)_(23808884_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh381322,992,623 - 24,336,746CLINVAR
GRCh371323,566,762 - 24,910,884CLINVAR
Build 361322,464,762 - 23,808,884CLINVAR
Cytogenetic Map1313q12.12CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8618334
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.