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Variant : CV479439 (NM_005359.5(SMAD4):c.1159G>A (p.Val387Met)) Homo sapiens

Symbol: CV479439
Name: NM_005359.5(SMAD4):c.1159G>A (p.Val387Met)
Condition: Hereditary cancer-predisposing syndrome [RCV000561803]
Clinical Significance: uncertain significance
Last Evaluated: 09/08/2016
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): NC_000018.10:g.51067038G>A
LRG_318t1:c.1159G>A
LRG_318:g.103999G>A
NG_013013.2:g.103999G>A
NC_000018.9:g.48593408G>A
LRG_318p1:p.Val387Met
NP_005350.1:p.Val387Met
Position
Human AssemblyChrPosition (strand)Source
GRCh381851,067,038 - 51,067,038CLINVAR
GRCh371848,593,408 - 48,593,408CLINVAR
Cytogenetic Map1818q21.2CLINVAR
Trait Synonyms: Cancer predisposition; Neoplastic Syndromes, Hereditary; Tumor predisposition



Disease Annotations

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13466800
Created: 2018-01-09
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.