Variant : CV162944 (GRCh38/hg38 15q23-25.1(chr15:70025300-78705993)x1) Homo sapiens

Symbol: CV162944
Name: GRCh38/hg38 15q23-25.1(chr15:70025300-78705993)x1
Condition: See cases [RCV000141666]
Clinical Significance: pathogenic
Last Evaluated: 03/24/2014
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ACSBG1   ADPGK   ADPGK-AS1   ARID3B   ARIH1   BBS4   C15orf39   CCDC33   CD276   CELF6   CHRNA3   CHRNA5   CHRNB4   CIB2   CLK3   COMMD4   COX5A   CPLX3   CRABP1   CSK   CSPG4   CT62   CYP11A1   CYP1A1   CYP1A2   DNAJA4   EDC3   ETFA   FAM219B   FBXO22   GOLGA6A   GOLGA6B   GOLGA6C   GOLGA6D   GRAMD2A   HCN4   HEXA   HEXA-AS1   HIGD2B   HMG20A   HYKK   IDH3A   IMP3   INSYN1   INSYN1-AS1   IREB2   ISL2   ISLR   ISLR2   LARP6   LINC00597   LINC02204   LINC02205   LINC02255   LINC02259   LINGO1   LINGO1-AS1   LINGO1-AS2   LMAN1L   LOXL1   LOXL1-AS1   LRRC49   MAN2C1   MIR3713   MIR4313   MIR4513   MIR629   MIR630   MIR631   MIR6881   MIR6882   MPI   MYO9A   NEIL1   NEO1   NPTN   NPTN-IT1   NR2E3   NRG4   ODF3L1   PARP6   PEAK1   PKM   PML   PPCDC   PSMA4   PSTPIP1   PTPN9   RCN2   REC114   RPP25   SALRNA2   SALRNA3   SCAMP2   SCAMP5   SCAPER   SEMA7A   SENP8   SH2D7   SIN3A   SNUPN   SNX33   STOML1   STRA6   TBC1D21   TBC1D2B   THAP10   THSD4   THSD4-AS1   THSD4-AS2   TLE3   TMEM202   TMEM202-AS1   TMEM266   TSPAN3   UACA   UBE2Q2   UBL7   UBL7-AS1   ULK3   WDR61  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000015.10:g.(?_70025300)_(78705993_?)del
NC_000015.9:g.(?_70317639)_(78998335_?)del
NC_000015.8:g.(?_68104693)_(76785390_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh381570,025,300 - 78,705,993CLINVAR
GRCh371570,317,639 - 78,998,335CLINVAR
Build 361568,104,693 - 76,785,390CLINVAR
Cytogenetic Map1515q23-25.1CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 9489191
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2019-06-12
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.