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

Variant : CV469799 (NM_005359.5(SMAD4):c.627C>T (p.Thr209=)) Homo sapiens

Symbol: CV469799
Name: NM_005359.5(SMAD4):c.627C>T (p.Thr209=)
Condition: Juvenile polyposis syndrome [RCV000533872]
Clinical Significance: likely benign
Last Evaluated: 04/25/2017
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.627C>T
LRG_318:g.91914C>T
NG_013013.2:g.91914C>T
NC_000018.10:g.51054953C>T
NC_000018.9:g.48581323C>T
LRG_318p1:p.Thr209=
NP_005350.1:p.Thr209=
Position
Human AssemblyChrPosition (strand)Source
GRCh381851,054,953 - 51,054,953CLINVAR
GRCh371848,581,323 - 48,581,323CLINVAR
Cytogenetic Map1818q21.2CLINVAR



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13499716
Created: 2018-01-09
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.