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Variant : CV485229 (NM_005359.5(SMAD4):c.1139+13T>A) Homo sapiens

Symbol: CV485229
Name: NM_005359.5(SMAD4):c.1139+13T>A
Condition: Hereditary cancer-predisposing syndrome [RCV000581915]
Clinical Significance: likely benign
Last Evaluated: 09/08/2017
Review Status: criteria provided, single submitter
Related Genes: SMAD4  
Variant Type: single nucleotide variant (SO:0001483)
Source: CLINVAR
Molecular Consequence: intron variant
Evidence: clinical testing
HGVS Name(s): LRG_318t1:c.1139+13T>A
LRG_318:g.102580T>A
NG_013013.2:g.102580T>A
NC_000018.10:g.51065619T>A
NC_000018.9:g.48591989T>A
NM_005359.5:c.1139+13T>A
Position
Human AssemblyChrPosition (strand)Source
GRCh381851,065,619 - 51,065,619CLINVAR
GRCh371848,591,989 - 48,591,989CLINVAR
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: 13511081
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.