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

Variant : CV73168 (GRCh38/hg38 15q22.31(chr15:64448836-65975439)x3) Homo sapiens

Symbol: CV73168
Name: GRCh38/hg38 15q22.31(chr15:64448836-65975439)x3
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052344]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052344]|See cases [RCV000052344]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ANKDD1A   CILP   CLPX   DENND4A   DPP8   HACD3   IGDCC3   IGDCC4   INTS14   KBTBD13   MEGF11   MIR1272   MIR4511   MTFMT   OAZ2   PARP16   PDCD7   PIF1   PLEKHO2   RAB11A   RASL12   RBPMS2   RNU5A-1   RNU5B-1   SLC24A1   SLC51B   SNORA24B   SNORD13E   SPG21   TRIP4   TRQ-CTG1-4   UBAP1L   ZNF609  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000015.10:g.(?_64448836)_(65975439_?)dup
NC_000015.9:g.(?_64741035)_(66267777_?)dup
NC_000015.8:g.(?_62528088)_(64054831_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh381564,448,836 - 65,975,439CLINVAR
GRCh371564,741,035 - 66,267,777CLINVAR
Build 361562,528,088 - 64,054,831CLINVAR
Cytogenetic Map1515q22.31CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 8619335
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2019-08-06
Status: ACTIVE



NHLBI Logo

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