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Variant : CV572654 (NM_005359.5(SMAD4):c.707G>A (p.Gly236Glu)) Homo sapiens

Symbol: CV572654
Name: NM_005359.5(SMAD4):c.707G>A (p.Gly236Glu)
Condition: Juvenile polyposis syndrome [RCV000692896]
Clinical Significance: uncertain significance
Last Evaluated: 03/12/2018
Review Status: criteria provided, single submitter
Related Genes: SMAD4  
Variant Type: single nucleotide variant (SO:0001483)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): NG_013013.2:g.95125G>A
NC_000018.10:g.51058164G>A
LRG_318t1:c.707G>A
LRG_318:g.95125G>A
NC_000018.9:g.48584534G>A
LRG_318p1:p.Gly236Glu
NP_005350.1:p.Gly236Glu
Position
Human AssemblyChrPosition (strand)Source
GRCh381851,058,164 - 51,058,164CLINVAR
GRCh371848,584,534 - 48,584,534CLINVAR
Cytogenetic Map1818q21.2CLINVAR



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13817253
Created: 2018-11-06
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.