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Variant : CV468994 (NM_005359.5(SMAD4):c.1608A>G (p.Leu536=)) Homo sapiens

Symbol: CV468994
Name: NM_005359.5(SMAD4):c.1608A>G (p.Leu536=)
Condition: Hereditary cancer-predisposing syndrome [RCV000773045]|Juvenile polyposis syndrome [RCV000560320]|not provided [RCV000590229]|not specified [RCV000611504]
Clinical Significance: likely benign|uncertain significance
Last Evaluated: 01/02/2018
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.1608A>G
LRG_318t1:c.1608A>G
LRG_318:g.115377A>G
NG_013013.2:g.115377A>G
NC_000018.10:g.51078416A>G
NC_000018.9:g.48604786A>G
LRG_318p1:p.Leu536=
NP_005350.1:p.Leu536=
Position
Human AssemblyChrPosition (strand)Source
GRCh381851,078,416 - 51,078,416CLINVAR
GRCh371848,604,786 - 48,604,786CLINVAR
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: 13468894
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.