Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Variant : CV236535 (NM_005359.5(SMAD4):c.798C>T (p.Thr266=)) Homo sapiens

Symbol: CV236535
Name: NM_005359.5(SMAD4):c.798C>T (p.Thr266=)
Condition: Hereditary cancer-predisposing syndrome [RCV000216155]|Tumor predisposition syndrome [RCV000216155]|Tumor susceptibility linked to germline BAP1 mutations [RCV000216155]
Clinical Significance: likely benign
Last Evaluated: 09/12/2015
Review Status: 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): LRG_318t1:c.798C>T
LRG_318:g.95311C>T
NG_013013.2:g.95311C>T
NC_000018.10:g.51058350C>T
NC_000018.9:g.48584720C>T
LRG_318p1:p.Thr266=
NP_005350.1:p.Thr266=
Position
Human AssemblyChrPosition (strand)Source
GRCh381851,058,350 - 51,058,350CLINVAR
GRCh371848,584,720 - 48,584,720CLINVAR
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: 11090520
Created: 2016-06-07
Species: Homo sapiens
Last Modified: 2019-11-12
Status: ACTIVE



NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.