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Variant : CV469814 (NM_005359.5(SMAD4):c.1287C>T (p.Ile429=)) Homo sapiens

Symbol: CV469814
Name: NM_005359.5(SMAD4):c.1287C>T (p.Ile429=)
Condition: Hereditary cancer-predisposing syndrome [RCV000583380]|Juvenile polyposis syndrome [RCV000549489]
Clinical Significance: likely benign
Last Evaluated: 04/07/2017
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): NM_005359.5:c.1287C>T
LRG_318:g.104127C>T
NG_013013.2:g.104127C>T
LRG_318t1:c.1287C>T
NC_000018.10:g.51067166C>T
NC_000018.9:g.48593536C>T
LRG_318p1:p.Ile429=
NP_005350.1:p.Ile429=
Position
Human AssemblyChrPosition (strand)Source
GRCh381851,067,166 - 51,067,166CLINVAR
GRCh371848,593,536 - 48,593,536CLINVAR
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: 13466029
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.