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Variant : CV71899 (GRCh38/hg38 1p31.3(chr1:61258246-63189366)x3) Homo sapiens

Symbol: CV71899
Name: GRCh38/hg38 1p31.3(chr1:61258246-63189366)x3
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050983]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050983]|See cases [RCV000050983]
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: ANGPTL3   ATG4C   DOCK7   KANK4   L1TD1   LINC00466   LINC01739   MIR12132   MIR3116-1   MIR3116-2   NFIA   PATJ   TM2D1   USP1  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000001.11:g.(?_61258246)_(63189366_?)dup
NC_000001.10:g.(?_61723918)_(63655037_?)dup
NC_000001.9:g.(?_61496506)_(63427625_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh38161,258,246 - 63,189,366CLINVAR
GRCh37161,723,918 - 63,655,037CLINVAR
Build 36161,496,506 - 63,427,625CLINVAR
Cytogenetic Map11p31.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8618036
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2019-11-12
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.