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Variant : CV159882 (GRCh38/hg38 8q23.3-24.13(chr8:114560780-122594102)x1) Homo sapiens

Symbol: CV159882
Name: GRCh38/hg38 8q23.3-24.13(chr8:114560780-122594102)x1
Condition: See cases [RCV000139027]
Clinical Significance: pathogenic
Last Evaluated: 06/25/2012
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: AARD   CCN3   COL14A1   COLEC10   DEPTOR   DSCC1   EIF3H   ENPP2   EXT1   HAS2   HAS2-AS1   LINC00536   LINC02855   MAL2   MAL2-AS1   MED30   MIR3610   MIR548AZ   MRPL13   MTBP   RAD21   RAD21-AS1   SAMD12   SAMD12-AS1   SLC30A8   SMILR   SNORD168   SNTB1   TAF2   TNFRSF11B   TRPS1   UTP23  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000008.11:g.(?_114560780)_(122594102_?)del
NC_000008.10:g.(?_115573009)_(123606341_?)del
NC_000008.9:g.(?_115642185)_(123675522_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh388114,560,780 - 122,594,102CLINVAR
GRCh378115,573,009 - 123,606,341CLINVAR
Build 368115,642,185 - 123,675,522CLINVAR
Cytogenetic Map88q23.3-24.13CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 9486559
Created: 2014-09-09
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.