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Variant : CV72023 (GRCh38/hg38 15q24.1-24.2(chr15:72671629-75662276)x1) Homo sapiens

Symbol: CV72023
Name: GRCh38/hg38 15q24.1-24.2(chr15:72671629-75662276)x1
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051128]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051128]|See cases [RCV000051128]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ADPGK   ADPGK-AS1   ARID3B   BBS4   C15orf39   CCDC33   CD276   CLK3   COMMD4   COX5A   CPLX3   CSK   CYP11A1   CYP1A1   CYP1A2   EDC3   FAM219B   GOLGA6A   GOLGA6C   GOLGA6D   HCN4   HIGD2B   IMP3   INSYN1   INSYN1-AS1   ISLR   ISLR2   LINC02255   LMAN1L   LOXL1   LOXL1-AS1   MAN2C1   MIR12135   MIR4513   MIR631   MIR6881   MIR6882   MPI   NEIL1   NEO1   NPTN   NPTN-IT1   PML   PPCDC   PTPN9   REC114   RPP25   SCAMP2   SCAMP5   SEMA7A   SIN3A   SNUPN   SNX33   STOML1   STRA6   TBC1D21   UBL7   UBL7-AS1   ULK3  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000015.9:g.(?_72963970)_(75954617_?)del
NC_000015.8:g.(?_70751023)_(73741672_?)del
NC_000015.10:g.(?_72671629)_(75662276_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh381572,671,629 - 75,662,276CLINVAR
GRCh371572,963,970 - 75,954,617CLINVAR
Build 361570,751,023 - 73,741,672CLINVAR
Cytogenetic Map1515q24.1-24.2CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8618170
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-03-24
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.