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Variant : CV165019 (GRCh38/hg38 5p15.33-15.32(chr5:22149-5102586)x1) Homo sapiens

Symbol: CV165019
Name: GRCh38/hg38 5p15.33-15.32(chr5:22149-5102586)x1
Condition: See cases [RCV000143332]
Clinical Significance: pathogenic
Last Evaluated: 11/27/2012
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: AHRR   BRD9   C5orf38   CCDC127   CEP72   CLPTM1L   EXOC3   EXOC3-AS1   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)
Evidence: clinical testing
HGVS Name(s): NC_000005.10:g.(?_22149)_(5102586_?)del
Human AssemblyChrPosition (strand)Source
GRCh38522,149 - 5,102,586CLINVAR
GRCh37522,149 - 5,102,699CLINVAR
Build 36575,149 - 5,155,699CLINVAR
Cytogenetic Map55p15.33-15.32CLINVAR

References - uncurated

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 9490930
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-02-20
Status: ACTIVE


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