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Variant : CV485550 (NM_005359.5(SMAD4):c.1525T>G (p.Trp509Gly)) Homo sapiens

Symbol: CV485550
Name: NM_005359.5(SMAD4):c.1525T>G (p.Trp509Gly)
Condition: Hereditary cancer-predisposing syndrome [RCV000584198]
Clinical Significance: uncertain significance
Last Evaluated: 09/05/2018
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): LRG_318t1:c.1525T>G
LRG_318:g.115294T>G
NG_013013.2:g.115294T>G
NC_000018.10:g.51078333T>G
NC_000018.9:g.48604703T>G
LRG_318p1:p.Trp509Gly
NP_005350.1:p.Trp509Gly
NM_005359.5:c.1525T>G
Position
Human AssemblyChrPosition (strand)Source
GRCh381851,078,333 - 51,078,333CLINVAR
GRCh371848,604,703 - 48,604,703CLINVAR
Cytogenetic Map1818q21.2CLINVAR
Trait Synonyms: Cancer predisposition; Neoplastic Syndromes, Hereditary; Tumor predisposition



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13512771
Created: 2018-03-06
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.