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Variant : CV236527 (NM_005359.5(SMAD4):c.297G>A (p.Trp99Ter)) Homo sapiens

Symbol: CV236527
Name: NM_005359.5(SMAD4):c.297G>A (p.Trp99Ter)
Condition: Hereditary cancer-predisposing syndrome [RCV000217432]|Tumor predisposition syndrome [RCV000217432]|Tumor susceptibility linked to germline BAP1 mutations [RCV000217432]
Clinical Significance: pathogenic
Last Evaluated: 07/17/2015
Review Status: criteria provided, single submitter
Related Genes: SMAD4  
Variant Type: single nucleotide variant (SO:0001483)
Source: CLINVAR
Molecular Consequence: nonsense
Evidence: clinical testing
HGVS Name(s): NM_005359.5:c.297G>A
LRG_318t1:c.297G>A
LRG_318:g.85694G>A
NG_013013.2:g.85694G>A
NC_000018.10:g.51048733G>A
NC_000018.9:g.48575103G>A
LRG_318p1:p.Trp99Ter
NP_005350.1:p.Trp99Ter
Position
Human AssemblyChrPosition (strand)Source
GRCh381851,048,733 - 51,048,733CLINVAR
GRCh371848,575,103 - 48,575,103CLINVAR
Cytogenetic Map1818q21.2CLINVAR
Trait Synonyms: Cancer predisposition; Neoplastic Syndromes, Hereditary; Tumor predisposition
Age Of Onset: adult



Disease Annotations
References - curated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11091543
Created: 2016-06-07
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.