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Variant : CV75001 (GRCh38/hg38 8q24.11-24.13(chr8:118059192-121574437)x1) Homo sapiens

Symbol: CV75001
Name: GRCh38/hg38 8q24.11-24.13(chr8:118059192-121574437)x1
Condition: Hereditary multiple osteochondromas [RCV000054304]|See cases [RCV000054304]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: CCN3   COL14A1   COLEC10   DEPTOR   DSCC1   ENPP2   EXT1   MAL2   MAL2-AS1   MIR548AZ   MRPL13   MTBP   SAMD12   SAMD12-AS1   SNTB1   TAF2   TNFRSF11B  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000008.11:g.(?_118059192)_(121574437_?)del
NC_000008.10:g.(?_119071431)_(122586677_?)del
NC_000008.9:g.(?_119140612)_(122655858_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh388118,059,192 - 121,574,437CLINVAR
GRCh378119,071,431 - 122,586,677CLINVAR
Build 368119,140,612 - 122,655,858CLINVAR
Cytogenetic Map88q24.11-24.13CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 8621195
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-03-24
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.