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Variant : CV570706 (NM_005343.4(HRAS):c.238T>A (p.Cys80Ser)) Homo sapiens

Symbol: CV570706
Name: NM_005343.4(HRAS):c.238T>A (p.Cys80Ser)
Condition: Costello syndrome [RCV000704627]
Clinical Significance: uncertain significance
Last Evaluated: 06/29/2018
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): NM_001318054.2:c.-82T>A
NM_001130442.2:c.238T>A
NG_007666.1:g.6733T>A
NC_000011.10:g.533818A>T
NC_000011.9:g.533818A>T
NM_005343.2:c.238T>A
NP_005334.1:p.Cys80Ser
NM_005343.4:c.238T>A
NM_176795.4:c.238T>A
NP_001123914.1:p.Cys80Ser
NP_789765.1:p.Cys80Ser
Position
Human AssemblyChrPosition (strand)Source
GRCh3811533,818 - 533,818CLINVAR
GRCh3711533,818 - 533,818CLINVAR
Cytogenetic Map1111p15.5CLINVAR



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13813842
Created: 2018-11-06
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.