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Variant : CV647306 (NM_005359.5:c.731C>T) Homo sapiens

Symbol: CV647306
Name: NM_005359.5:c.731C>T
Condition: Juvenile polyposis syndrome [RCV000806063]
Clinical Significance: uncertain significance
Last Evaluated: 09/27/2018
Review Status: criteria provided, single submitter
Related Genes: SMAD4  
Variant Type: single nucleotide variant (SO:0001483)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): LRG_318t1:c.731C>T
LRG_318:g.95149C>T
NG_013013.2:g.95149C>T
NC_000018.10:g.51058188C>T
NC_000018.9:g.48584558C>T
LRG_318p1:p.Pro244Leu
NP_005350.1:p.Pro244Leu
Position
Human AssemblyChrPosition (strand)Source
GRCh381851,058,188 - 51,058,188CLINVAR
GRCh371848,584,558 - 48,584,558CLINVAR
Cytogenetic Map1818q21.2CLINVAR



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 14717051
Created: 2019-09-06
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.