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Variant : CV479379 (NM_005359.5(SMAD4):c.147G>A (p.Glu49=)) Homo sapiens

Symbol: CV479379
Name: NM_005359.5(SMAD4):c.147G>A (p.Glu49=)
Condition: Hereditary cancer-predisposing syndrome [RCV000575125]
Clinical Significance: likely benign
Last Evaluated: 05/10/2016
Review Status: criteria provided, single submitter
Related Genes: SMAD4  
Variant Type: single nucleotide variant (SO:0001483)
Source: CLINVAR
Molecular Consequence: synonymous variant
Evidence: clinical testing
HGVS Name(s): LRG_318t1:c.147G>A
LRG_318:g.84154G>A
NG_013013.2:g.84154G>A
NC_000018.10:g.51047193G>A
NC_000018.9:g.48573563G>A
LRG_318p1:p.Glu49=
NP_005350.1:p.Glu49=
NM_005359.5:c.147G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh381851,047,193 - 51,047,193CLINVAR
GRCh371848,573,563 - 48,573,563CLINVAR
Cytogenetic Map1818q21.2CLINVAR
Trait Synonyms: Cancer predisposition; Neoplastic Syndromes, Hereditary; Tumor predisposition



Disease Annotations

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13502439
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.