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Variant : CV175336 (NC_000011.9:g.(?_532631)_(534375_?)dup) Homo sapiens

Symbol: CV175336
Name: NC_000011.9:g.(?_532631)_(534375_?)dup
Condition: Costello syndrome [RCV000461310]|not specified [RCV000156408]
Clinical Significance: uncertain significance
Last Evaluated: 10/16/2016
Review Status: classified by single submitter|criteria provided, single submitter
Related Genes: HRAS   LRRC56  
Variant Type: duplication (SO:1000035)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000011.9:g.(?_532631)_(534375_?)dup
NM_005343.2:c.(?_-53)_(*5_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh3811532,631 - 534,375CLINVAR
GRCh3711532,631 - 534,375CLINVAR
Cytogenetic Map1111p15.5CLINVAR
Trait Synonyms: AllHighlyPenetrant
Age Of Onset: antenatal
Prevalence: <1 / 1 000 000



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9690719
Created: 2015-02-10
Species: Homo sapiens
Last Modified: 2019-12-03
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.