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Variant : CV485536 (NM_005359.5(SMAD4):c.756A>G (p.Gly252=)) Homo sapiens

Symbol: CV485536
Name: NM_005359.5(SMAD4):c.756A>G (p.Gly252=)
Condition: Hereditary cancer-predisposing syndrome [RCV000581784]
Clinical Significance: likely benign
Last Evaluated: 09/05/2017
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.756A>G
LRG_318:g.95174A>G
NG_013013.2:g.95174A>G
NC_000018.10:g.51058213A>G
NC_000018.9:g.48584583A>G
LRG_318p1:p.Gly252=
NP_005350.1:p.Gly252=
Position
Human AssemblyChrPosition (strand)Source
GRCh381851,058,213 - 51,058,213CLINVAR
GRCh371848,584,583 - 48,584,583CLINVAR
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: 13510984
Created: 2018-03-06
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.