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Variant : CV163304 (GRCh38/hg38 5p15.33-15.32(chr5:113461-6243977)x1) Homo sapiens

Symbol: CV163304
Name: GRCh38/hg38 5p15.33-15.32(chr5:113461-6243977)x1
Condition: See cases [RCV000141898]
Clinical Significance: pathogenic
Last Evaluated: 07/16/2013
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   PDCD6-AHRR   PLEKHG4B   SDHA   SLC12A7   SLC6A18   SLC6A19   SLC6A3   SLC9A3   SLC9A3-AS1   TERT   TPPP   TRIP13   ZDHHC11   ZDHHC11B  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
HGVS Name(s): NC_000005.10:g.(?_113461)_(6243977_?)del
Human AssemblyChrPosition (strand)Source
GRCh385113,461 - 6,243,977CLINVAR
GRCh375113,576 - 6,244,090CLINVAR
Build 365166,576 - 6,297,090CLINVAR
Cytogenetic Map55p15.33-15.32CLINVAR

References - uncurated

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 9489420
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-05-26
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.