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Variant : CV647301 (NM_005359.5:c.546C>G) Homo sapiens

Symbol: CV647301
Name: NM_005359.5:c.546C>G
Condition: Juvenile polyposis syndrome [RCV000817707]
Clinical Significance: uncertain significance
Last Evaluated: 12/03/2018
Review Status: criteria provided, single submitter
Related Genes: SMAD4  
Variant Type: single nucleotide variant (SO:0001483)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NM_005359.5:c.546C>G
NP_005350.1:p.Ile182Met
NG_013013.2:g.91833C>G
NC_000018.10:g.51054872C>G
NC_000018.9:g.48581242C>G
LRG_318p1:p.Ile182Met
LRG_318t1:c.546C>G
LRG_318:g.91833C>G
Position
Human AssemblyChrPosition (strand)Source
GRCh381851,054,872 - 51,054,872CLINVAR
GRCh371848,581,242 - 48,581,242CLINVAR
Cytogenetic Map1818q21.2CLINVAR



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 14701580
Created: 2019-09-06
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.