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Variant : CV618921 (NM_005359.5(SMAD4):c.1479T>C (p.Asp493=)) Homo sapiens

Symbol: CV618921
Name: NM_005359.5(SMAD4):c.1479T>C (p.Asp493=)
Condition: Hereditary cancer-predisposing syndrome [RCV000772866]
Clinical Significance: likely benign
Last Evaluated: 05/15/2018
Review Status: criteria provided, single submitter
Related Genes: SMAD4  
Variant Type: single nucleotide variant (SO:0001483)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NG_013013.2:g.115248T>C
NC_000018.10:g.51078287T>C
LRG_318p1:p.Asp493=
LRG_318:g.115248T>C
NC_000018.9:g.48604657T>C
LRG_318t1:c.1479T>C
NP_005350.1:p.Asp493=
Position
Human AssemblyChrPosition (strand)Source
GRCh381851,078,287 - 51,078,287CLINVAR
GRCh371848,604,657 - 48,604,657CLINVAR
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: 14691927
Created: 2019-06-11
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.