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Variant : CV74501 (GRCh38/hg38 9q34.11(chr9:127919476-130079974)x3) Homo sapiens

Symbol: CV74501
Name: GRCh38/hg38 9q34.11(chr9:127919476-130079974)x3
Condition: Dandy-Walker syndrome [RCV000053777]|See cases [RCV000053777]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ASB6   C9orf106   C9orf16   C9orf50   C9orf78   CERCAM   CIZ1   COQ4   CRAT   DNM1   DOLK   DOLPP1   DPM2   ENDOG   FAM102A   FNBP1   GLE1   GOLGA2   GPR107   IER5L   KYAT1   LCN2   LINC00963   LINC01503   LRRC8A   MIGA2   MIR199B   MIR219A2   MIR219B   MIR3154   MIR6855   NAIF1   NTMT1   NUP188   ODF2   PHYHD1   PIP5KL1   PKN3   PRRX2   PRRX2-AS1   PTGES   PTGES2   PTGES2-AS1   PTPA   SET   SH3GLB2   SLC25A25   SLC25A25-AS1   SLC27A4   SPOUT1   SPTAN1   SWI5   TBC1D13   TOR1A   TOR1B   TRR-TCT3-1   TRUB2   URM1   USP20   WDR34   ZDHHC12   ZER1  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000009.12:g.(?_127919476)_(130079974_?)dup
NC_000009.11:g.(?_130681755)_(132842253_?)dup
NC_000009.10:g.(?_129721576)_(131882074_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh389127,919,476 - 130,079,974CLINVAR
GRCh379130,681,755 - 132,842,253CLINVAR
Build 369129,721,576 - 131,882,074CLINVAR
Cytogenetic Map99q34.11CLINVAR
Age Of Onset: neonatal/infancy
Prevalence: 1-9 / 100 000



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8620692
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2019-12-03
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.