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Variant : CV185450 (NM_005359.5(SMAD4):c.1248A>G (p.Arg416=)) Homo sapiens

Symbol: CV185450
Name: NM_005359.5(SMAD4):c.1248A>G (p.Arg416=)
Condition: Hereditary cancer-predisposing syndrome [RCV000165297]|Juvenile polyposis syndrome [RCV000412222]
Clinical Significance: likely benign
Last Evaluated: 08/03/2017
Review Status: classified by single submitter|criteria provided, multiple submitters, no conflicts|criteria provided, single submitter
Related Genes: SMAD4  
Variant Type: single nucleotide variant (SO:0001483)
Source: CLINVAR
Molecular Consequence: synonymous variant
Evidence: clinical testing
HGVS Name(s): LRG_318t1:c.1248A>G
LRG_318:g.104088A>G
NG_013013.2:g.104088A>G
NC_000018.10:g.51067127A>G
NC_000018.9:g.48593497A>G
p.R416R
LRG_318p1:p.Arg416=
NP_005350.1:p.Arg416=
NM_005359.5:c.1248A>G
Position
Human AssemblyChrPosition (strand)Source
GRCh381851,067,127 - 51,067,127CLINVAR
GRCh371848,593,497 - 48,593,497CLINVAR
Cytogenetic Map1818q21.2CLINVAR
Trait Synonyms: Cancer predisposition; Neoplastic Syndromes, Hereditary; Tumor predisposition
Prevalence: 1-9 / 100 000



Disease Annotations
References - curated
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9852643
Created: 2015-04-07
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.