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Variant : CV161922 (GRCh38/hg38 9q31.2-33.1(chr9:107530314-117965944)x1) Homo sapiens

Symbol: CV161922
Name: GRCh38/hg38 9q31.2-33.1(chr9:107530314-117965944)x1
Condition: See cases [RCV000140794]
Clinical Significance: pathogenic
Last Evaluated: 03/04/2013
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ABITRAM   ACTL7A   ACTL7B   AKNA   ALAD   AMBP   ASTN2   ASTN2-AS1   ATP6V1G1   BSPRY   C9orf147   C9orf152   C9orf43   CDC26   COL27A1   CTNNAL1   DELEC1   DNAJC25   DNAJC25-GNG10   ECPAS   ELP1   EPB41L4B   FAM225A   FAM225B   FKBP15   FRRS1L   GNG10   HDHD3   HSDL2   INIP   KIAA1958   KIF12   LINC00474   LPAR1   MIR32   MIR3927   MIR455   MIR4668   MIR7702   MUSK   OR2K2   ORM1   ORM2   PALM2AKAP2   PAPPA   PAPPA-AS1   POLE3   PRPF4   PTBP3   PTGR1   PTPN3   RGS3   RNF183   SHOC1   SLC31A1   SLC31A2   SLC46A2   SNORA70C   SNX30   SUSD1   SVEP1   TEX48   TEX53   TLR4   TMEM245   TMEM268   TNC   TNFSF15   TNFSF8   TRIM32   TRR-TCG6-1   TXN   TXNDC8   UGCG   WDR31   WHRN   ZFP37   ZNF483   ZNF618   ZNF883  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
HGVS Name(s): NC_000009.12:g.(?_107530314)_(117965944_?)del
Human AssemblyChrPosition (strand)Source
GRCh389107,530,314 - 117,965,944CLINVAR
GRCh379110,292,595 - 120,728,222CLINVAR
Build 369109,332,416 - 119,768,043CLINVAR
Cytogenetic Map99q31.2-33.1CLINVAR

References - uncurated

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 9488322
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-01-14
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.