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Variant : CV819682 (NC_000006.12:g.(?_33173681)_(33451926_?)dup) Homo sapiens

Symbol: CV819682
Name: NC_000006.12:g.(?_33173681)_(33451926_?)dup
Condition: Mental retardation, autosomal dominant 5 [RCV001032258]
Clinical Significance: uncertain significance
Last Evaluated: 10/24/2019
Review Status: criteria provided, single submitter
Related Genes: B3GALT4   COL11A2   CUTA   DAXX   HSD17B8   KIFC1   MIR219A1   PFDN6   PHF1   RGL2   RING1   RPS18   RXRB   SLC39A7   SYNGAP1   TAPBP   VPS52   WDR46   ZBTB22  
Variant Type: duplication (SO:1000035)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000006.12:g.(?_33173681)_(33451926_?)dup
NC_000006.11:g.(?_33141458)_(33419703_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh37633,141,458 - 33,419,703CLINVAR
Cytogenetic Map66p21.32CLINVAR



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 26891781
Created: 2020-05-12
Species: Homo sapiens
Last Modified: 2020-10-20
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.