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Variant : CV200413 (NC_000002.12:g.(?_239048168)_(240879119_?)del) Homo sapiens

Symbol: CV200413
Name: NC_000002.12:g.(?_239048168)_(240879119_?)del
Condition: Primary hyperoxaluria, type I [RCV000186424]
Clinical Significance: pathogenic
Last Evaluated: 11/27/2014
Review Status: no assertion criteria provided
Related Genes: AGXT   ANKMY1   AQP12A   AQP12B   CAPN10   CAPN10-DT   COPS9   DUSP28   GPC1   GPR35   HDAC4   HDAC4-AS1   KIF1A   MIR149   MIR2467   MIR4269   MIR4440   MIR4441   MIR4786   NDUFA10   OR6B2   OR6B3   OTOS   PRR21   RNPEPL1  
Variant Type: deletion (SO:0000159)
Source: CLINVAR
Evidence: research
HGVS Name(s): NC_000002.12:g.(?_239048168)_(240879119_?)del
g.238094544-telomere
Position
Human AssemblyChrPosition (strand)Source
GRCh382239,048,168 - 240,879,119CLINVAR
Cytogenetic Map22q37.3CLINVAR
Trait Synonyms: OXALOSIS I
Age Of Onset: all ages|variable
Prevalence: 1 per million|1-9 / 1 000 000



Disease Annotations
References - curated
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 10056534
Created: 2015-08-11
Species: Homo sapiens
Last Modified: 2020-02-11
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.