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Variant : CV532460 (NM_005359.5(SMAD4):c.593C>G (p.Pro198Arg)) Homo sapiens

Symbol: CV532460
Name: NM_005359.5(SMAD4):c.593C>G (p.Pro198Arg)
Condition: Juvenile polyposis syndrome [RCV000635435]
Clinical Significance: uncertain significance
Last Evaluated: 03/22/2018
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.593C>G
LRG_318t1:c.593C>G
LRG_318:g.91880C>G
NG_013013.2:g.91880C>G
NC_000018.10:g.51054919C>G
NC_000018.9:g.48581289C>G
LRG_318p1:p.Pro198Arg
NP_005350.1:p.Pro198Arg
Position
Human AssemblyChrPosition (strand)Source
GRCh381851,054,919 - 51,054,919CLINVAR
GRCh371848,581,289 - 48,581,289CLINVAR
Cytogenetic Map1818q21.2CLINVAR



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13619114
Created: 2018-06-12
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.