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Variant : CV570200 (NM_005359.5(SMAD4):c.367T>C (p.Cys123Arg)) Homo sapiens

Symbol: CV570200
Name: NM_005359.5(SMAD4):c.367T>C (p.Cys123Arg)
Condition: Juvenile polyposis syndrome [RCV000687300]
Clinical Significance: uncertain significance
Last Evaluated: 03/29/2018
Review Status: criteria provided, single submitter
Related Genes: SMAD4  
Variant Type: single nucleotide variant (SO:0001483)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): NM_005359.5:c.367T>C
LRG_318t1:c.367T>C
LRG_318:g.85764T>C
NG_013013.2:g.85764T>C
NC_000018.10:g.51048803T>C
NC_000018.9:g.48575173T>C
LRG_318p1:p.Cys123Arg
NP_005350.1:p.Cys123Arg
Position
Human AssemblyChrPosition (strand)Source
GRCh381851,048,803 - 51,048,803CLINVAR
GRCh371848,575,173 - 48,575,173CLINVAR
Cytogenetic Map1818q21.2CLINVAR



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13808508
Created: 2018-11-06
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.