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Variant : CV72828 (GRCh38/hg38 13q12.12(chr13:22672788-23489498)x3) Homo sapiens

Symbol: CV72828
Name: GRCh38/hg38 13q12.12(chr13:22672788-23489498)x3
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051982]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051982]|See cases [RCV000051982]
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: LINC00327   LINC00621   SACS   SACS-AS1   SGCG  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000013.11:g.(?_22672788)_(23489498_?)dup
NC_000013.10:g.(?_23246927)_(24063637_?)dup
NC_000013.9:g.(?_22144927)_(22961637_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh381322,672,788 - 23,489,498CLINVAR
GRCh371323,246,927 - 24,063,637CLINVAR
Build 361322,144,927 - 22,961,637CLINVAR
Cytogenetic Map1313q12.12CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8618990
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-01-07
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.