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Variant : CV377037 (NM_005359.5(SMAD4):c.366A>G (p.Lys122=)) Homo sapiens

Symbol: CV377037
Name: NM_005359.5(SMAD4):c.366A>G (p.Lys122=)
Condition: Hereditary cancer-predisposing syndrome [RCV000579520]|Juvenile polyposis syndrome [RCV000696232]|not specified [RCV000438520]
Clinical Significance: likely benign|uncertain significance
Last Evaluated: 07/13/2018
Review Status: 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.366A>G
LRG_318t1:c.366A>G
LRG_318:g.85763A>G
NG_013013.2:g.85763A>G
NC_000018.10:g.51048802A>G
NC_000018.9:g.48575172A>G
LRG_318p1:p.Lys122=
NP_005350.1:p.Lys122=
Position
Human AssemblyChrPosition (strand)Source
GRCh381851,048,802 - 51,048,802CLINVAR
GRCh371848,575,172 - 48,575,172CLINVAR
Cytogenetic Map1818q21.2CLINVAR
Trait Synonyms: AllHighlyPenetrant; Cancer predisposition; Neoplastic Syndromes, Hereditary; Tumor predisposition



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 12844732
Created: 2017-04-11
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.