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Variant : CV23579 (SMAD4, 4-BP DEL, NT1372) Homo sapiens

Symbol: CV23579
Name: SMAD4, 4-BP DEL, NT1372
Condition: Juvenile polyposis syndrome [RCV000009066]
Clinical Significance: pathogenic
Last Evaluated: 07/27/2012
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: SMAD4  
Variant Type: deletion (SO:0000159)
Source: CLINVAR
Nucleotide Change: 4-bp del, nt1372
Evidence: literature only
Position
Human AssemblyChrPosition (strand)Source
Cytogenetic Map1818q21.1CLINVAR
Age Of Onset: variable
Prevalence: 1-9 / 100 000



Disease Annotations
References - curated
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8560529
Created: 2014-05-13
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.