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Variant : CV36202 (NM_005359.5(SMAD4):c.1529G>T (p.Gly510Val)) Homo sapiens

Symbol: CV36202
Name: NM_005359.5(SMAD4):c.1529G>T (p.Gly510Val)
Condition: Juvenile polyposis syndrome [RCV000021742]
Clinical Significance: pathogenic
Last Evaluated: 12/04/2012
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: SMAD4  
Variant Type: single nucleotide variant (SO:0001483)
Source: CLINVAR
Molecular Consequence: missense|missense variant
Evidence: clinical testing
HGVS Name(s): LRG_318t1:c.1529G>T
LRG_318:g.115298G>T
NG_013013.2:g.115298G>T
NC_000018.10:g.51078337G>T
NC_000018.9:g.48604707G>T
LRG_318p1:p.Gly510Val
NP_005350.1:p.Gly510Val
NM_005359.5:c.1529G>T
Position
Human AssemblyChrPosition (strand)Source
GRCh381851,078,337 - 51,078,337CLINVAR
GRCh371848,604,707 - 48,604,707CLINVAR
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: 8567657
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.