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Variant : CV398682 (NM_005343.4(HRAS):c.106A>G (p.Ile36Val)) Homo sapiens

Symbol: CV398682
Name: NM_005343.4(HRAS):c.106A>G (p.Ile36Val)
Condition: Costello syndrome [RCV000475424]
Clinical Significance: uncertain significance
Last Evaluated: 11/15/2016
Review Status: criteria provided, single submitter
Related Genes: HRAS   LRRC56  
Variant Type: single nucleotide variant (SO:0001623)
Source: CLINVAR
Molecular Consequence: 5 prime utr variant|missense variant
Evidence: clinical testing
HGVS Name(s): NG_007666.1:g.6334A>G
NC_000011.10:g.534217T>C
NC_000011.9:g.534217T>C
NM_005343.2:c.106A>G
NP_005334.1:p.Ile36Val
NM_001318054.2:c.-214A>G
NM_001130442.2:c.106A>G
NM_005343.4:c.106A>G
NM_176795.4:c.106A>G
NP_001123914.1:p.Ile36Val
NP_789765.1:p.Ile36Val
Position
Human AssemblyChrPosition (strand)Source
GRCh3811534,217 - 534,217CLINVAR
GRCh3711534,217 - 534,217CLINVAR
Cytogenetic Map1111p15.5CLINVAR
Age Of Onset: antenatal
Prevalence: <1 / 1 000 000



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 12890843
Created: 2017-05-09
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.