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

Variant : CV164435 (GRCh38/hg38 15q24.1-24.2(chr15:72671629-75242989)x1) Homo sapiens

Symbol: CV164435
Name: GRCh38/hg38 15q24.1-24.2(chr15:72671629-75242989)x1
Condition: See cases [RCV000142748]
Clinical Significance: pathogenic
Last Evaluated: 12/22/2010
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ADPGK   ADPGK-AS1   ARID3B   BBS4   C15orf39   CCDC33   CD276   CLK3   COX5A   CPLX3   CSK   CYP11A1   CYP1A1   CYP1A2   EDC3   FAM219B   GOLGA6A   HCN4   HIGD2B   INSYN1   INSYN1-AS1   ISLR   ISLR2   LINC02255   LMAN1L   LOXL1   LOXL1-AS1   MIR4513   MIR6881   MIR6882   MPI   NEO1   NPTN   NPTN-IT1   PML   PPCDC   REC114   RPP25   SCAMP2   SCAMP5   SEMA7A   STOML1   STRA6   TBC1D21   UBL7   UBL7-AS1   ULK3  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000015.10:g.(?_72671629)_(75242989_?)del
NC_000015.9:g.(?_72963970)_(75535330_?)del
NC_000015.8:g.(?_70751023)_(73322383_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh381572,671,629 - 75,242,989CLINVAR
GRCh371572,963,970 - 75,535,330CLINVAR
Build 361570,751,023 - 73,322,383CLINVAR
Cytogenetic Map1515q24.1-24.2CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 9490346
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2019-06-12
Status: ACTIVE



NHLBI Logo

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