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Variant : CV570194 (NM_005359.5(SMAD4):c.8A>G (p.Asn3Ser)) Homo sapiens

Symbol: CV570194
Name: NM_005359.5(SMAD4):c.8A>G (p.Asn3Ser)
Condition: Juvenile polyposis syndrome [RCV000704409]
Clinical Significance: uncertain significance
Last Evaluated: 08/27/2018
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.8A>G
LRG_318:g.84015A>G
NG_013013.2:g.84015A>G
NC_000018.10:g.51047054A>G
NC_000018.9:g.48573424A>G
LRG_318p1:p.Asn3Ser
NP_005350.1:p.Asn3Ser
Position
Human AssemblyChrPosition (strand)Source
GRCh381851,047,054 - 51,047,054CLINVAR
GRCh371848,573,424 - 48,573,424CLINVAR
Cytogenetic Map1818q21.2CLINVAR



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13813511
Created: 2018-11-06
Species: Homo sapiens
Last Modified: 2019-11-12
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.