Variant : CV71735 (GRCh38/hg38 15q23-24.1(chr15:68830574-73823337)x1) Homo sapiens

Symbol: CV71735
Name: GRCh38/hg38 15q23-24.1(chr15:68830574-73823337)x1
Condition: Abnormality of the nervous system [RCV000050780]|See cases [RCV000050780]
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   ARIH1   BBS4   CD276   CELF6   CT62   DRAIC   EWSAT1   GLCE   GOLGA6B   GRAMD2A   HCN4   HEXA   HEXA-AS1   HIGD2B   INSYN1   INSYN1-AS1   KIF23   LARP6   LINC00593   LINC02204   LINC02205   LINC02259   LRRC49   MIR629   MIR630   MYO9A   NEO1   NOX5   NPTN   NPTN-IT1   NR2E3   PAQR5   PARP6   PCAT29   PKM   REC114   RPLP1   SALRNA2   SALRNA3   SENP8   SPESP1   THAP10   THSD4   THSD4-AS1   THSD4-AS2   TLE3   TMEM202   TMEM202-AS1   UACA  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000015.10:g.(?_68830574)_(73823337_?)del
NC_000015.9:g.(?_69122913)_(74115678_?)del
NC_000015.8:g.(?_66909967)_(71902731_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh381568,830,574 - 73,823,337CLINVAR
GRCh371569,122,913 - 74,115,678CLINVAR
Build 361566,909,967 - 71,902,731CLINVAR
Cytogenetic Map1515q23-24.1CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 8617858
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2019-06-04
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.