Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Variant : CV72032 (GRCh38/hg38 15q15.1(chr15:41865122-42329484)x3) Homo sapiens

Symbol: CV72032
Name: GRCh38/hg38 15q15.1(chr15:41865122-42329484)x3
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051140]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051140]|See cases [RCV000051140]
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: EHD4   EHD4-AS1   GANC   MIR4310   MIR627   PLA2G4D   PLA2G4E   PLA2G4E-AS1   PLA2G4F   SPTBN5   TMEM87A   VPS39  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000015.9:g.(?_42157320)_(42621682_?)dup
NC_000015.8:g.(?_39944612)_(40408974_?)dup
NC_000015.10:g.(?_41865122)_(42329484_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh381541,865,122 - 42,329,484CLINVAR
GRCh371542,157,320 - 42,621,682CLINVAR
Build 361539,944,612 - 40,408,974CLINVAR
Cytogenetic Map1515q15.1CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8618181
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-01-21
Status: ACTIVE



NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.