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Variant : CV179418 (NM_005343.4(HRAS):c.177C>T (p.Ala59=)) Homo sapiens

Symbol: CV179418
Name: NM_005343.4(HRAS):c.177C>T (p.Ala59=)
Condition: Costello syndrome [RCV000470354]|Rasopathy [RCV000157907]|not specified [RCV000157907]
Clinical Significance: benign|likely benign|conflicting interpretations of pathogenicity
Last Evaluated: 11/07/2016
Review Status: classified by single submitter|criteria provided, conflicting interpretations|criteria provided, multiple submitters, no conflicts|criteria provided, single submitter
Related Genes: HRAS   LRRC56  
Variant Type: single nucleotide variant (SO:0001623)
Source: CLINVAR
Molecular Consequence: 5 prime utr variant|synonymous variant
Evidence: clinical testing
HGVS Name(s): NG_007666.1:g.6672C>T
NC_000011.10:g.533879G>A
NC_000011.9:g.533879G>A
NP_005334.1:p.Ala59=
NM_005343.2:c.177C>T
NP_789765.1:p.Ala59=
NM_001318054.2:c.-143C>T
NM_176795.4:c.177C>T
NP_001123914.1:p.Ala59=
NM_001130442.2:c.177C>T
NM_005343.4:c.177C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh3811533,879 - 533,879CLINVAR
GRCh3711533,879 - 533,879CLINVAR
Cytogenetic Map1111p15.5CLINVAR
Trait Synonyms: AllHighlyPenetrant
Age Of Onset: antenatal
Prevalence: <1 / 1 000 000



Disease Annotations
References - curated
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9832731
Created: 2015-03-10
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.