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Variant : CV213425 (NM_005359.5(SMAD4):c.1142T>A (p.Leu381Ter)) Homo sapiens

Symbol: CV213425
Name: NM_005359.5(SMAD4):c.1142T>A (p.Leu381Ter)
Condition: Juvenile polyposis syndrome [RCV000200787]
Clinical Significance: pathogenic
Last Evaluated: 04/28/2015
Review Status: criteria provided, single submitter
Related Genes: SMAD4  
Variant Type: single nucleotide variant (SO:0001483)
Source: CLINVAR
Molecular Consequence: nonsense
Evidence: clinical testing
HGVS Name(s): LRG_318t1:c.1142T>A
LRG_318:g.103982T>A
NG_013013.2:g.103982T>A
NC_000018.10:g.51067021T>A
NC_000018.9:g.48593391T>A
LRG_318p1:p.Leu381Ter
NP_005350.1:p.Leu381Ter
Position
Human AssemblyChrPosition (strand)Source
GRCh381851,067,021 - 51,067,021CLINVAR
GRCh371848,593,391 - 48,593,391CLINVAR
Cytogenetic Map1818q21.2CLINVAR
Prevalence: 1-9 / 100 000



Disease Annotations
References - curated
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 10407729
Created: 2015-11-10
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.