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Variant : CV38866 (NM_005343.4(HRAS):c.110_111+1dup) Homo sapiens

Symbol: CV38866
Name: NM_005343.4(HRAS):c.110_111+1dup
Condition: Costello syndrome [RCV000022797]
Clinical Significance: pathogenic
Last Evaluated: 03/14/2013
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: HRAS   LRRC56  
Variant Type: duplication (SO:0001575)
Source: CLINVAR
Molecular Consequence: splice donor variant
Evidence: literature only
HGVS Name(s): NM_005343.4:c.110_111+1dup
NM_005343.2:c.110_111+1dup
NM_001318054.2:c.-210_-209+1dup
NG_007666.1:g.6338_6340dup
NM_001130442.2:c.110_111+1dup
NM_176795.4:c.110_111+1dup
NC_000011.10:g.534212_534214dup
NC_000011.9:g.534212_534214dup
Position
Human AssemblyChrPosition (strand)Source
GRCh3811534,211 - 534,213CLINVAR
GRCh3711534,211 - 534,213CLINVAR
Cytogenetic Map1111p15.5CLINVAR
Age Of Onset: antenatal|neonatal/infancy
Prevalence: <1 / 1 000 000



Disease Annotations
References - curated
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8568000
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2019-11-12
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.