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Variant : CV485215 (NM_005359.5(SMAD4):c.787+18A>C) Homo sapiens

Symbol: CV485215
Name: NM_005359.5(SMAD4):c.787+18A>C
Condition: Hereditary cancer-predisposing syndrome [RCV000584322]
Clinical Significance: likely benign
Last Evaluated: 06/20/2016
Review Status: criteria provided, single submitter
Related Genes: SMAD4  
Variant Type: single nucleotide variant (SO:0001483)
Source: CLINVAR
Molecular Consequence: intron variant
Evidence: clinical testing
HGVS Name(s): LRG_318t1:c.787+18A>C
LRG_318:g.95223A>C
NG_013013.2:g.95223A>C
NC_000018.10:g.51058262A>C
NC_000018.9:g.48584632A>C
NM_005359.5:c.787+18A>C
Position
Human AssemblyChrPosition (strand)Source
GRCh381851,058,262 - 51,058,262CLINVAR
GRCh371848,584,632 - 48,584,632CLINVAR
Cytogenetic Map1818q21.2CLINVAR
Trait Synonyms: Cancer predisposition; Neoplastic Syndromes, Hereditary; Tumor predisposition



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13512860
Created: 2018-03-06
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.