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Variant : CV243073 (NM_005359.5(SMAD4):c.1006G>C (p.Gly336Arg)) Homo sapiens

Symbol: CV243073
Name: NM_005359.5(SMAD4):c.1006G>C (p.Gly336Arg)
Condition: Juvenile polyposis syndrome [RCV000228061]
Clinical Significance: uncertain significance
Last Evaluated: 10/11/2018
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): LRG_318t1:c.1006G>C
LRG_318:g.102434G>C
NG_013013.2:g.102434G>C
NC_000018.10:g.51065473G>C
NC_000018.9:g.48591843G>C
LRG_318p1:p.Gly336Arg
NP_005350.1:p.Gly336Arg
NM_005359.5:c.1006G>C
Position
Human AssemblyChrPosition (strand)Source
GRCh381851,065,473 - 51,065,473CLINVAR
GRCh371848,591,843 - 48,591,843CLINVAR
Cytogenetic Map1818q21.2CLINVAR
Prevalence: 1-9 / 100 000



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11346312
Created: 2016-07-12
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.