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Variant : CV618913 (NM_005359.5(SMAD4):c.1008A>G (p.Gly336=)) Homo sapiens

Symbol: CV618913
Name: NM_005359.5(SMAD4):c.1008A>G (p.Gly336=)
Condition: Hereditary cancer-predisposing syndrome [RCV000774116]
Clinical Significance: likely benign
Last Evaluated: 10/02/2018
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.102436A>G
LRG_318:g.102436A>G
LRG_318t1:c.1008A>G
NC_000018.10:g.51065475A>G
NC_000018.9:g.48591845A>G
LRG_318p1:p.Gly336=
NP_005350.1:p.Gly336=
Position
Human AssemblyChrPosition (strand)Source
GRCh381851,065,475 - 51,065,475CLINVAR
GRCh371848,591,845 - 48,591,845CLINVAR
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: 14692584
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.