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Variant : CV651550 (NC_000006.11:g.(?_33131435)_(33419703_?)dup) Homo sapiens

Symbol: CV651550
Name: NC_000006.11:g.(?_33131435)_(33419703_?)dup
Condition: Mental retardation, autosomal dominant 5 [RCV000817954]
Clinical Significance: uncertain significance
Last Evaluated: 08/20/2018
Review Status: criteria provided, single submitter
Related Genes: B3GALT4   COL11A2   CUTA   DAXX   HCG25   HSD17B8   KIFC1   MIR219A1   MIR5004   MIR6834   MIR6873   PFDN6   PHF1   RGL2   RING1   RPS18   RXRB   SLC39A7   SMIM40   SYNGAP1   TAPBP   VPS52   WDR46   ZBTB22  
Variant Type: duplication (SO:1000035)
Evidence: clinical testing
HGVS Name(s): NC_000006.11:g.(?_33131435)_(33419703_?)dup
Human AssemblyChrPosition (strand)Source
GRCh38633,163,658 - 33,451,926CLINVAR
GRCh37633,131,435 - 33,419,703CLINVAR
Cytogenetic Map66p21.32CLINVAR

Disease Annotations
References - uncurated

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 14701651
Created: 2019-09-06
Species: Homo sapiens
Last Modified: 2020-03-24
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.