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Variant : CV485385 (NM_005359.5(SMAD4):c.955+25_955+43del) Homo sapiens

Symbol: CV485385
Name: NM_005359.5(SMAD4):c.955+25_955+43del
Condition: Hereditary cancer-predisposing syndrome [RCV000581616]
Clinical Significance: likely benign
Last Evaluated: 02/03/2017
Review Status: criteria provided, single submitter
Related Genes: SMAD4  
Variant Type: deletion (SO:0000159)
Source: CLINVAR
Molecular Consequence: intron variant
Evidence: clinical testing
HGVS Name(s): LRG_318t1:c.955+25_955+43del
LRG_318:g.96902_96920del
NG_013013.2:g.96902_96920del
NC_000018.10:g.51059941_51059959del
NC_000018.9:g.48586311_48586329del
NM_005359.5:c.955+25_955+43del
Position
Human AssemblyChrPosition (strand)Source
GRCh381851,059,941 - 51,059,959CLINVAR
GRCh371848,586,311 - 48,586,329CLINVAR
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: 13510853
Created: 2018-03-06
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.