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Variant : CV72309 (GRCh38/hg38 13q34(chr13:111541166-113671678)x1) Homo sapiens

Symbol: CV72309
Name: GRCh38/hg38 13q34(chr13:111541166-113671678)x1
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051453]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051453]|See cases [RCV000051453]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ADPRHL1   ATP11A   ATP11A-AS1   ATP11AUN   ATP4B   CUL4A   DCUN1D2   F10   F10-AS1   F7   GRK1   GRTP1   GRTP1-AS1   LAMP1   LINC00354   LINC01043   LINC01044   LINC01070   LINC02337   LOC101928841   MCF2L   MCF2L-AS1   MIR8075   PCID2   PROZ   SOX1   SOX1-OT   SPACA7   TFDP1   TMCO3   TUBGCP3  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000013.11:g.(?_111541166)_(113671678_?)del
NC_000013.10:g.(?_112193513)_(114325993_?)del
NC_000013.9:g.(?_110991514)_(113648401_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh3813111,541,166 - 113,671,678CLINVAR
GRCh3713112,193,513 - 114,325,993CLINVAR
Build 3613110,991,514 - 113,648,401CLINVAR
Cytogenetic Map1313q34CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8618469
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.