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Variant : CV73718 (GRCh38/hg38 9q22.33-33.1(chr9:99349916-115767475)x1) Homo sapiens

Symbol: CV73718
Name: GRCh38/hg38 9q22.33-33.1(chr9:99349916-115767475)x1
Condition: Chiari malformation type II [RCV000052921]|See cases [RCV000052921]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ABCA1   ABITRAM   ACTL7A   ACTL7B   AKNA   ALAD   ALDOB   AMBP   ATP6V1G1   BAAT   BSPRY   C9orf147   C9orf152   C9orf43   CAVIN4   CDC26   COL27A1   CT70   CTNNAL1   CYLC2   DELEC1   DNAJC25   DNAJC25-GNG10   ECPAS   ELP1   EPB41L4B   ERP44   FAM225A   FAM225B   FKBP15   FKTN   FRRS1L   FSD1L   GNG10   GRIN3A   HDHD3   HSDL2   INIP   INVS   KIAA1958   KIF12   KLF4   LINC00587   LINC01492   LINC01505   LINC01509   LPAR1   MIR32   MIR3927   MIR455   MIR4668   MIR7702   MIR8081   MRPL50   MSANTD3   MSANTD3-TMEFF1   MUSK   NAMA   NIPSNAP3A   NIPSNAP3B   NR4A3   OR13C2   OR13C3   OR13C4   OR13C5   OR13C8   OR13C9   OR13D1   OR13F1   OR2K2   ORM1   ORM2   PALM2AKAP2   PGAP4   PLPPR1   POLE3   PPP3R2   PRPF4   PTBP3   PTGR1   PTPN3   RAD23B   RGS3   RNF183   RNF20   SHOC1   SLC31A1   SLC31A2   SLC44A1   SLC46A2   SMC2   SMC2-AS1   SNX30   STX17   STX17-AS1   SUSD1   SVEP1   TAL2   TEX10   TEX48   TEX53   TMEFF1   TMEM245   TMEM246-AS1   TMEM268   TMEM38B   TNC   TNFSF15   TNFSF8   TRR-TCG6-1   TXN   TXNDC8   UGCG   WDR31   WHRN   ZFP37   ZNF189   ZNF462   ZNF483   ZNF618   ZNF883  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000009.12:g.(?_99349916)_(115767475_?)del
NC_000009.11:g.(?_102112198)_(118529754_?)del
NC_000009.10:g.(?_101152019)_(117569575_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh38999,349,916 - 115,767,475CLINVAR
GRCh379102,112,198 - 118,529,754CLINVAR
Build 369101,152,019 - 117,569,575CLINVAR
Cytogenetic Map99q22.33-33.1CLINVAR
Age Of Onset: childhood



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8619891
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-01-14
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.