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Variant : CV36209 (NM_005359.5(SMAD4):c.1588delC (p.His530Thrfs)) Homo sapiens

Symbol: CV36209
Name: NM_005359.5(SMAD4):c.1588delC (p.His530Thrfs)
Condition: Juvenile polyposis syndrome [RCV000021749]
Clinical Significance: pathogenic
Last Evaluated: 12/04/2012
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: SMAD4  
Variant Type: deletion (SO:0000159)
Source: CLINVAR
Molecular Consequence: frameshift variant
Evidence: clinical testing
HGVS Name(s): NG_013013.2:g.115357del
NC_000018.10:g.51078396del
LRG_318t1:c.1588del
LRG_318:g.115357del
LRG_318p1:p.His530fs
NP_005350.1:p.His530fs
NC_000018.9:g.48604766del
NM_005359.5:c.1588del
NM_005359.5:c.1588delC
Position
Human AssemblyChrPosition (strand)Source
GRCh381851,078,396 - 51,078,396CLINVAR
GRCh371848,604,766 - 48,604,766CLINVAR
Cytogenetic Map1818q21.2CLINVAR
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: 8567664
Created: 2014-05-13
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.