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Variant : CV54470 (NM_005343.4(HRAS):c.401C>T (p.Ala134Val)) Homo sapiens

Symbol: CV54470
Name: NM_005343.4(HRAS):c.401C>T (p.Ala134Val)
Condition: AllHighlyPenetrant [RCV000038463]|Costello syndrome [RCV000230783]|not specified [RCV000038463]
Clinical Significance: uncertain significance
Last Evaluated: 02/04/2016
Review Status: classified by single submitter|criteria provided, single submitter
Related Genes: HRAS   LRRC56  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense|missense variant
Evidence: clinical testing
HGVS Name(s): NG_007666.1:g.7049C>T
NC_000011.10:g.533502G>A
NC_000011.9:g.533502G>A
NP_005334.1:p.Ala134Val
c.401C>T
NM_005343.2:c.401C>T
NM_001130442.2:c.401C>T
NM_005343.4:c.401C>T
NM_001318054.2:c.82C>T
NP_001123914.1:p.Ala134Val
NP_789765.1:p.Ala134Val
NP_001304983.1:p.Pro28Ser
NM_176795.4:c.401C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh3811533,502 - 533,502CLINVAR
GRCh3711533,502 - 533,502CLINVAR
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: 8608142
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.