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Variant : CV398657 (NM_005343.4(HRAS):c.519T>G (p.Pro173=)) Homo sapiens

Symbol: CV398657
Name: NM_005343.4(HRAS):c.519T>G (p.Pro173=)
Condition: Costello syndrome [RCV000465686]
Clinical Significance: likely benign
Last Evaluated: 05/30/2016
Review Status: criteria provided, single submitter
Related Genes: HRAS   LRRC56  
Variant Type: single nucleotide variant (SO:0001624)
Source: CLINVAR
Molecular Consequence: 3 prime utr variant|synonymous variant
Evidence: clinical testing
HGVS Name(s): NG_007666.1:g.7864T>G
NC_000011.10:g.532687A>C
NC_000011.9:g.532687A>C
NM_005343.2:c.519T>G
NP_005334.1:p.Pro173=
NM_176795.4:c.*88T>G
NM_001318054.2:c.282T>G
NM_001130442.2:c.519T>G
NM_005343.4:c.519T>G
NP_001123914.1:p.Pro173=
NP_001304983.1:p.Pro94=
Position
Human AssemblyChrPosition (strand)Source
GRCh3811532,687 - 532,687CLINVAR
GRCh3711532,687 - 532,687CLINVAR
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: 12885599
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.