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Variant : CV72660 (GRCh38/hg38 5p15.33-15.31(chr5:21949-8872509)x3) Homo sapiens

Symbol: CV72660
Name: GRCh38/hg38 5p15.33-15.31(chr5:21949-8872509)x3
Condition: Nonprogressive encephalopathy [RCV000051808]|See cases [RCV000051808]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ADAMTS16   ADCY2   AHRR   BRD9   C5orf38   C5orf49   CCDC127   CEP72   CLPTM1L   EXOC3   EXOC3-AS1   FASTKD3   ICE1   IRX1   IRX2   IRX4   IRX4-AS1   LINC01017   LINC01018   LINC01019   LINC01020   LINC01377   LINC01511   LINC02063   LINC02102   LINC02114   LINC02116   LINC02121   LINC02123   LINC02142   LINC02145   LINC02162   LINC02199   LINC02226   LINC02236   LPCAT1   LRRC14B   LSINCT5   MED10   MIR4277   MIR4278   MIR4456   MIR4457   MIR4458   MIR4458HG   MIR4635   MIR6075   MRPL36   MTRR   NDUFS6   NKD2   NSUN2   PDCD6   PLEKHG4B   SDHA   SLC12A7   SLC6A18   SLC6A19   SLC6A3   SLC9A3   SLC9A3-AS1   SRD5A1   TENT4A   TERT   TPPP   TRIP13   UBE2QL1   ZDHHC11   ZDHHC11B  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000005.10:g.(?_21949)_(8872509_?)dup
NC_000005.9:g.(?_21949)_(8872621_?)dup
NC_000005.8:g.(?_74949)_(8925621_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh38521,949 - 8,872,509CLINVAR
GRCh37521,949 - 8,872,621CLINVAR
Build 36574,949 - 8,925,621CLINVAR
Cytogenetic Map55p15.33-15.31CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8618820
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-02-20
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.