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Variant : CV138253 (NM_005343.4(HRAS):c.473C>T (p.Thr158Met)) Homo sapiens

Symbol: CV138253
Name: NM_005343.4(HRAS):c.473C>T (p.Thr158Met)
Condition: AllHighlyPenetrant [RCV000121201]|Costello syndrome [RCV000813562]|not specified [RCV000121201]
Clinical Significance: uncertain significance|not provided
Last Evaluated: 11/21/2018
Review Status: criteria provided, single submitter|no assertion provided|not classified by submitter
Related Genes: HRAS   LRRC56  
Variant Type: single nucleotide variant (SO:0001624)
Source: CLINVAR
Molecular Consequence: 3 prime utr variant|missense variant
Evidence: clinical testing|reference population
HGVS Name(s): NG_007666.1:g.7818C>T
NC_000011.10:g.532733G>A
NC_000011.9:g.532733G>A
NP_005334.1:p.Thr158Met
NM_176795.4:c.*42C>T
NM_005343.2:c.473C>T
NM_001318054.2:c.236C>T
NM_001130442.2:c.473C>T
NM_005343.4:c.473C>T
NP_001123914.1:p.Thr158Met
NP_001304983.1:p.Thr79Met
Position
Human AssemblyChrPosition (strand)Source
GRCh3811532,733 - 532,733CLINVAR
GRCh3711532,733 - 532,733CLINVAR
Cytogenetic Map1111p15.5CLINVAR
Trait Synonyms: AllHighlyPenetrant



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8687785
Created: 2014-07-08
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.