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Variant : CV479365 (NM_005359.5(SMAD4):c.789C>T (p.Asn263=)) Homo sapiens

Symbol: CV479365
Name: NM_005359.5(SMAD4):c.789C>T (p.Asn263=)
Condition: Hereditary cancer-predisposing syndrome [RCV000571444]|Juvenile polyposis syndrome [RCV000635500]
Clinical Significance: likely benign
Last Evaluated: 09/13/2017
Review Status: criteria provided, multiple submitters, no conflicts|criteria provided, single submitter
Related Genes: SMAD4  
Variant Type: single nucleotide variant (SO:0001483)
Source: CLINVAR
Molecular Consequence: synonymous variant
Evidence: clinical testing
HGVS Name(s): NM_005359.5:c.789C>T
LRG_318t1:c.789C>T
LRG_318:g.95302C>T
NG_013013.2:g.95302C>T
NC_000018.10:g.51058341C>T
NC_000018.9:g.48584711C>T
LRG_318p1:p.Asn263=
NP_005350.1:p.Asn263=
Position
Human AssemblyChrPosition (strand)Source
GRCh381851,058,341 - 51,058,341CLINVAR
GRCh371848,584,711 - 48,584,711CLINVAR
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: 13494348
Created: 2018-01-09
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.