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Variant : CV821325 (NC_000020.11:g.(?_408719)_(765794_?)dup) Homo sapiens

Symbol: CV821325
Name: NC_000020.11:g.(?_408719)_(765794_?)dup
Condition: Polyglucosan body myopathy 1 with or without immunodeficiency [RCV001032626]
Clinical Significance: uncertain significance
Last Evaluated: 09/13/2019
Review Status: criteria provided, single submitter
Related Genes: CSNK2A1   RBCK1   SCRT2   SLC52A3   SRXN1   TBC1D20   TCF15  
Variant Type: duplication (SO:1000035)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000020.11:g.(?_408719)_(765794_?)dup
NC_000020.10:g.(?_389363)_(746438_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh3720389,363 - 746,438CLINVAR
Cytogenetic Map2020p13CLINVAR
Trait Synonyms: POLYGLUCOSAN BODY MYOPATHY 1 WITH IMMUNODEFICIENCY; POLYGLUCOSAN BODY MYOPATHY 1 WITHOUT IMMUNODEFICIENCY; POLYGLUCOSAN BODY MYOPATHY WITHOUT IMMUNODEFICIENCY



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 26892635
Created: 2020-05-12
Species: Homo sapiens
Last Modified: 2020-06-30
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.