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Variant : CV73416 (GRCh38/hg38 10q26.13-26.2(chr10:122973296-128210291)x1) Homo sapiens

Symbol: CV73416
Name: GRCh38/hg38 10q26.13-26.2(chr10:122973296-128210291)x1
Condition: See cases [RCV000052610]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ABRAXAS2   ACADSB   ADAM12   AL158835.1   AL589787.1   BCCIP   BUB3   C10orf90   CHST15   CLRN3   CPXM2   CTBP2   DHX32   DOCK1   EDRF1   EDRF1-AS1   EDRF1-DT   EEF1AKMT2   FAM53B   FAM53B-AS1   FANK1   FANK1-AS1   FOXI2   GPR26   HMX2   HMX3   IKZF5   INSYN2A   LHPP   LINC00601   LINC02641   MIR4296   MIR4484   MKI67   MMP21   NKX1-2   NPS   OAT   PSTK   PTPRE   TEX36   TEX36-AS1   UROS   ZRANB1  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000010.11:g.(?_122973296)_(128210291_?)del
NC_000010.10:g.(?_124732812)_(130008555_?)del
NC_000010.9:g.(?_124722802)_(129898545_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh3810122,973,296 - 128,210,291CLINVAR
GRCh3710124,732,812 - 130,008,555CLINVAR
Build 3610124,722,802 - 129,898,545CLINVAR
Cytogenetic Map1010q26.13-26.2CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8619586
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-08-04
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.