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Variant : CV466199 (NC_000017.10:g.(?_62018111)_(62987152_?)dup) Homo sapiens

Symbol: CV466199
Name: NC_000017.10:g.(?_62018111)_(62987152_?)dup
Condition: Hyperkalemic Periodic Paralysis Type 1 [RCV000542611]
Clinical Significance: uncertain significance
Last Evaluated: 05/25/2017
Review Status: criteria provided, single submitter
Related Genes: CEP95   DDX5   ERN1   ICAM2   LRRC37A3   MILR1   PECAM1   POLG2   PRR29   SCN4A   SMURF2   TEX2  
Variant Type: duplication (SO:1000035)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000017.10:g.(?_62018111)_(62987152_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh371762,018,111 - 62,987,152CLINVAR
Cytogenetic Map1717q23.3-24.1CLINVAR
Trait Synonyms: ADYNAMIA EPISODICA HEREDITARIA WITH OR WITHOUT MYOTONIA; GAMSTORP DISEASE



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13503445
Created: 2018-01-16
Species: Homo sapiens
Last Modified: 2020-08-04
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.