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Variant : CV236523 (NM_005359.5(SMAD4):c.23A>G (p.Asn8Ser)) Homo sapiens

Symbol: CV236523
Name: NM_005359.5(SMAD4):c.23A>G (p.Asn8Ser)
Condition: Hereditary cancer-predisposing syndrome [RCV000221947]|Juvenile polyposis syndrome [RCV000822284]|Tumor predisposition syndrome [RCV000221947]|Tumor susceptibility linked to germline BAP1 mutations [RCV000221947]
Clinical Significance: uncertain significance
Last Evaluated: 11/05/2018
Review Status: 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): NM_005359.5:c.23A>G
LRG_318t1:c.23A>G
LRG_318:g.84030A>G
NG_013013.2:g.84030A>G
NC_000018.10:g.51047069A>G
NC_000018.9:g.48573439A>G
LRG_318p1:p.Asn8Ser
NP_005350.1:p.Asn8Ser
Position
Human AssemblyChrPosition (strand)Source
GRCh381851,047,069 - 51,047,069CLINVAR
GRCh371848,573,439 - 48,573,439CLINVAR
Cytogenetic Map1818q21.2CLINVAR
Trait Synonyms: Cancer predisposition; Neoplastic Syndromes, Hereditary; Tumor predisposition
Age Of Onset: adult



Disease Annotations
References - curated
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11095151
Created: 2016-06-07
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.