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Variant : CV651812 (NC_000009.11:g.(?_130216797)_(130953151_?)dup) Homo sapiens

Symbol: CV651812
Name: NC_000009.11:g.(?_130216797)_(130953151_?)dup
Condition: Congenital disorder of glycosylation type 1u [RCV000821291]
Clinical Significance: uncertain significance
Last Evaluated: 10/13/2018
Review Status: criteria provided, single submitter
Related Genes: AK1   AL162586.1   C9orf16   CDK9   CFAP157   CIZ1   DPM2   ENG   FAM102A   FPGS   LCN2   LRSAM1   MIR2861   MIR3911   MIR3960   MIR4672   NAIF1   NIBAN2   PIP5KL1   PTGES2   PTGES2-AS1   PTRH1   SH2D3C   SLC25A25   SLC25A25-AS1   ST6GALNAC4   ST6GALNAC6   STXBP1   TOR2A   TTC16  
Variant Type: duplication (SO:1000035)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000009.11:g.(?_130216797)_(130953151_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh389127,454,518 - 128,190,872CLINVAR
GRCh379130,216,797 - 130,953,151CLINVAR
Cytogenetic Map99q33.3-34.11CLINVAR
Trait Synonyms: CDG Iu



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 14702060
Created: 2019-09-06
Species: Homo sapiens
Last Modified: 2020-07-28
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.