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Variant : CV243062 (NM_005359.5(SMAD4):c.177A>G (p.Thr59=)) Homo sapiens

Symbol: CV243062
Name: NM_005359.5(SMAD4):c.177A>G (p.Thr59=)
Condition: Cardiovascular phenotype [RCV000617135]|Hereditary cancer-predisposing syndrome [RCV000567186]|Juvenile polyposis syndrome [RCV000230080]
Clinical Significance: likely benign
Last Evaluated: 04/05/2017
Review Status: criteria provided, multiple submitters, no conflicts|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.177A>G
LRG_318t1:c.177A>G
LRG_318:g.84184A>G
NG_013013.2:g.84184A>G
NC_000018.10:g.51047223A>G
NC_000018.9:g.48573593A>G
LRG_318p1:p.Thr59=
NP_005350.1:p.Thr59=
Position
Human AssemblyChrPosition (strand)Source
GRCh381851,047,223 - 51,047,223CLINVAR
GRCh371848,573,593 - 48,573,593CLINVAR
Cytogenetic Map1818q21.2CLINVAR
Trait Synonyms: Cancer predisposition; Neoplastic Syndromes, Hereditary; Tumor predisposition
Prevalence: 1-9 / 100 000



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11349321
Created: 2016-07-12
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.