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Variant : CV164800 (GRCh38/hg38 17q24.2-24.3(chr17:68420514-71351235)x1) Homo sapiens

Symbol: CV164800
Name: GRCh38/hg38 17q24.2-24.3(chr17:68420514-71351235)x1
Condition: See cases [RCV000143113]
Clinical Significance: pathogenic
Last Evaluated: 11/14/2012
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ABCA10   ABCA5   ABCA6   ABCA8   ABCA9   ABCA9-AS1   ARSG   CASC17   FAM20A   KCNJ16   KCNJ2   KCNJ2-AS1   LINC01028   LINC01482   LINC01483   LINC01497   MAP2K6   MIR4524A   MIR4524B   MIR635   PRKAR1A   WIPI1  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000017.11:g.(?_68420514)_(71351235_?)del
NC_000017.10:g.(?_66416655)_(69347376_?)del
NC_000017.9:g.(?_63928250)_(66858971_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh381768,420,514 - 71,351,235CLINVAR
GRCh371766,416,655 - 69,347,376CLINVAR
Build 361763,928,250 - 66,858,971CLINVAR
Cytogenetic Map1717q24.2-24.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9490711
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-01-14
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.