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Variant : CV155399 (GRCh38/hg38 9q31.1-32(chr9:103767420-112984794)x1) Homo sapiens

Symbol: CV155399
Name: GRCh38/hg38 9q31.1-32(chr9:103767420-112984794)x1
Condition: See cases [RCV000134976]
Clinical Significance: pathogenic
Last Evaluated: 01/27/2011
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ABCA1   ABITRAM   ACTL7A   ACTL7B   C9orf147   C9orf152   CT70   CTNNAL1   DNAJC25   DNAJC25-GNG10   ECPAS   ELP1   EPB41L4B   FKTN   FRRS1L   FSD1L   GNG10   HSDL2   INIP   KIAA1958   KLF4   LINC01505   LINC01509   LPAR1   MIR32   MIR3927   MIR4668   MIR7702   MIR8081   MUSK   NIPSNAP3A   NIPSNAP3B   OR13C2   OR13C3   OR13C4   OR13C5   OR13C8   OR13C9   OR13D1   OR13F1   OR2K2   PALM2AKAP2   PTBP3   PTGR1   PTPN3   RAD23B   SHOC1   SLC44A1   SLC46A2   SMC2   SMC2-AS1   SNX30   SUSD1   SVEP1   TAL2   TMEM245   TMEM38B   TRR-TCG6-1   TXN   TXNDC8   UGCG   ZNF462   ZNF483  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000009.12:g.(?_103767420)_(112984794_?)del
NC_000009.11:g.(?_106529701)_(115747074_?)del
NC_000009.10:g.(?_105569522)_(114786895_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh389103,767,420 - 112,984,794CLINVAR
GRCh379106,529,701 - 115,747,074CLINVAR
Build 369105,569,522 - 114,786,895CLINVAR
Cytogenetic Map99q31.1-32CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9482549
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-01-21
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.