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Variant : CV72739 (GRCh38/hg38 13q12.3(chr13:30336888-30830135)x1) Homo sapiens

Symbol: CV72739
Name: GRCh38/hg38 13q12.3(chr13:30336888-30830135)x1
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051890]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051890]|See cases [RCV000051890]
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: ALOX5AP   HMGB1   LINC00398   LINC00426   LINC01058   TRN-GTT2-4   UBE2L5   USPL1  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000013.11:g.(?_30336888)_(30830135_?)del
NC_000013.10:g.(?_30911025)_(31404272_?)del
NC_000013.9:g.(?_29809025)_(30302272_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh381330,336,888 - 30,830,135CLINVAR
GRCh371330,911,025 - 31,404,272CLINVAR
Build 361329,809,025 - 30,302,272CLINVAR
Cytogenetic Map1313q12.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8618900
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.