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Variant : CV532445 (NM_005359.5(SMAD4):c.454+2T>C) Homo sapiens

Symbol: CV532445
Name: NM_005359.5(SMAD4):c.454+2T>C
Condition: Juvenile polyposis syndrome [RCV000635439]
Clinical Significance: likely pathogenic
Last Evaluated: 11/14/2017
Review Status: criteria provided, single submitter
Related Genes: SMAD4  
Variant Type: single nucleotide variant (SO:0001483)
Source: CLINVAR
Molecular Consequence: splice donor variant
Evidence: clinical testing
HGVS Name(s): LRG_318t1:c.454+2T>C
LRG_318:g.86287T>C
NG_013013.2:g.86287T>C
NC_000018.10:g.51049326T>C
NC_000018.9:g.48575696T>C
NM_005359.5:c.454+2T>C
Position
Human AssemblyChrPosition (strand)Source
GRCh381851,049,326 - 51,049,326CLINVAR
GRCh371848,575,696 - 48,575,696CLINVAR
Cytogenetic Map1818q21.2CLINVAR



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13619120
Created: 2018-06-12
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.