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Variant : CV213423 (NM_005359.5(SMAD4):c.956-3T>C) Homo sapiens

Symbol: CV213423
Name: NM_005359.5(SMAD4):c.956-3T>C
Condition: Hereditary cancer-predisposing syndrome [RCV000568565]|Juvenile polyposis syndrome [RCV000198197]
Clinical Significance: uncertain significance
Last Evaluated: 08/02/2018
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: intron variant
Evidence: clinical testing
HGVS Name(s): LRG_318t1:c.956-3T>C
LRG_318:g.102381T>C
NG_013013.2:g.102381T>C
NC_000018.10:g.51065420T>C
NC_000018.9:g.48591790T>C
NM_005359.5:c.956-3T>C
Position
Human AssemblyChrPosition (strand)Source
GRCh381851,065,420 - 51,065,420CLINVAR
GRCh371848,591,790 - 48,591,790CLINVAR
Cytogenetic Map1818q21.2CLINVAR
Trait Synonyms: Cancer predisposition; Neoplastic Syndromes, Hereditary; Tumor predisposition
Prevalence: 1-9 / 100 000



Disease Annotations
References - curated
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 10407536
Created: 2015-11-10
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.