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Variant : CV38867 (NM_005343.4(HRAS):c.108_110dup (p.Glu37dup)) Homo sapiens

Symbol: CV38867
Name: NM_005343.4(HRAS):c.108_110dup (p.Glu37dup)
Condition: Costello syndrome [RCV000022798]
Clinical Significance: pathogenic
Last Evaluated: 03/25/2014
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: HRAS   LRRC56  
Variant Type: duplication (SO:0001623)
Source: CLINVAR
Molecular Consequence: 5 prime utr variant|inframe_variant
Evidence: literature only
HGVS Name(s): NM_005343.4:c.108_110dup
NM_005343.2:c.108_110dup
NC_000011.10:g.534213_534215dup
NC_000011.9:g.534213_534215dup
NG_007666.1:g.6336_6338dup
NM_001130442.2:c.108_110dup
NM_176795.4:c.108_110dup
NP_001123914.1:p.Glu37dup
NP_005334.1:p.Glu37dup
NM_001318054.2:c.-212_-210dup
NP_789765.1:p.Glu37dup
Position
Human AssemblyChrPosition (strand)Source
GRCh3811534,213 - 534,215CLINVAR
GRCh3711534,213 - 534,215CLINVAR
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: 8568001
Created: 2014-05-13
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.