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Variant : CV213418 (NM_005359.5(SMAD4):c.127T>G (p.Leu43Val)) Homo sapiens

Symbol: CV213418
Name: NM_005359.5(SMAD4):c.127T>G (p.Leu43Val)
Condition: Juvenile polyposis syndrome [RCV000199820]
Clinical Significance: uncertain significance
Last Evaluated: 04/08/2015
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.127T>G
LRG_318:g.84134T>G
NG_013013.2:g.84134T>G
NC_000018.10:g.51047173T>G
NC_000018.9:g.48573543T>G
LRG_318p1:p.Leu43Val
NP_005350.1:p.Leu43Val
NM_005359.5:c.127T>G
Position
Human AssemblyChrPosition (strand)Source
GRCh381851,047,173 - 51,047,173CLINVAR
GRCh371848,573,543 - 48,573,543CLINVAR
Cytogenetic Map1818q21.2CLINVAR
Prevalence: 1-9 / 100 000



Disease Annotations
References - curated
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 10407661
Created: 2015-11-10
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.