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Variant : CV222760 (NM_005359.5(SMAD4):c.1512delT (p.Phe505Leufs)) Homo sapiens

Symbol: CV222760
Name: NM_005359.5(SMAD4):c.1512delT (p.Phe505Leufs)
Condition: Juvenile polyposis syndrome [RCV000205617]
Clinical Significance: likely pathogenic
Last Evaluated: 08/08/2015
Review Status: criteria provided, single submitter
Related Genes: SMAD4  
Variant Type: deletion (SO:0000159)
Source: CLINVAR
Molecular Consequence: frameshift variant
Evidence: clinical testing
HGVS Name(s): LRG_318t1:c.1512del
LRG_318p1:p.Phe505fs
NP_005350.1:p.Phe505fs
NG_013013.2:g.115284del
NC_000018.10:g.51078323del
LRG_318:g.115284del
NM_005359.5:c.1515del
NC_000018.9:g.48604693del
NM_005359.5:c.1512delT
Position
Human AssemblyChrPosition (strand)Source
GRCh381851,078,320 - 51,078,320CLINVAR
GRCh371848,604,690 - 48,604,690CLINVAR
Cytogenetic Map1818q21.2CLINVAR
Prevalence: 1-9 / 100 000



Disease Annotations
References - curated
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 10767968
Created: 2016-02-09
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.