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Variant : CV164384 (GRCh38/hg38 5p15.33-15.32(chr5:95128-5834551)x1) Homo sapiens

Symbol: CV164384
Name: GRCh38/hg38 5p15.33-15.32(chr5:95128-5834551)x1
Condition: See cases [RCV000142697]
Clinical Significance: pathogenic
Last Evaluated: 10/14/2010
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ADAMTS16   AHRR   BRD9   C5orf38   CCDC127   CEP72   CLPTM1L   EXOC3   EXOC3-AS1   ICE1   IRX1   IRX2   IRX4   IRX4-AS1   LINC01017   LINC01019   LINC01020   LINC01377   LINC01511   LINC02063   LINC02114   LINC02116   LINC02121   LINC02162   LPCAT1   LRRC14B   LSINCT5   MIR4277   MIR4456   MIR4457   MIR4635   MIR6075   MRPL36   NDUFS6   NKD2   PDCD6   PLEKHG4B   SDHA   SLC12A7   SLC6A18   SLC6A19   SLC6A3   SLC9A3   SLC9A3-AS1   TERT   TPPP   TRIP13   ZDHHC11   ZDHHC11B  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000005.10:g.(?_95128)_(5834551_?)del
NC_000005.9:g.(?_95243)_(5834664_?)del
NC_000005.8:g.(?_148243)_(5887664_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh38595,128 - 5,834,551CLINVAR
GRCh37595,243 - 5,834,664CLINVAR
Build 365148,243 - 5,887,664CLINVAR
Cytogenetic Map55p15.33-15.32CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9490295
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-02-11
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.