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Variant : CV479390 (NM_005359.5(SMAD4):c.16A>G (p.Ile6Val)) Homo sapiens

Symbol: CV479390
Name: NM_005359.5(SMAD4):c.16A>G (p.Ile6Val)
Condition: Hereditary cancer-predisposing syndrome [RCV000569854]
Clinical Significance: uncertain significance
Last Evaluated: 08/25/2018
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: missense variant
Evidence: clinical testing
HGVS Name(s): LRG_318t1:c.16A>G
LRG_318:g.84023A>G
NG_013013.2:g.84023A>G
NC_000018.10:g.51047062A>G
NC_000018.9:g.48573432A>G
LRG_318p1:p.Ile6Val
NP_005350.1:p.Ile6Val
NM_005359.5:c.16A>G
Position
Human AssemblyChrPosition (strand)Source
GRCh381851,047,062 - 51,047,062CLINVAR
GRCh371848,573,432 - 48,573,432CLINVAR
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: 13490940
Created: 2018-01-09
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.