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Variant : CV480136 (NM_005359.5(SMAD4):c.319A>G (p.Asn107Asp)) Homo sapiens

Symbol: CV480136
Name: NM_005359.5(SMAD4):c.319A>G (p.Asn107Asp)
Condition: Hereditary cancer-predisposing syndrome [RCV000568514]
Clinical Significance: uncertain significance
Last Evaluated: 09/07/2016
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): NM_005359.5:c.319A>G
LRG_318:g.85716A>G
NG_013013.2:g.85716A>G
NC_000018.10:g.51048755A>G
NC_000018.9:g.48575125A>G
LRG_318p1:p.Asn107Asp
NP_005350.1:p.Asn107Asp
LRG_318t1:c.319A>G
Position
Human AssemblyChrPosition (strand)Source
GRCh381851,048,755 - 51,048,755CLINVAR
GRCh371848,575,125 - 48,575,125CLINVAR
Cytogenetic Map1818q21.2CLINVAR
Trait Synonyms: Cancer predisposition; Neoplastic Syndromes, Hereditary; Tumor predisposition



Disease Annotations

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13487305
Created: 2018-01-09
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.