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Variant : CV236540 (NM_005359.5(SMAD4):c.1200G>T (p.Arg400Ser)) Homo sapiens

Symbol: CV236540
Name: NM_005359.5(SMAD4):c.1200G>T (p.Arg400Ser)
Condition: Hereditary cancer-predisposing syndrome [RCV000214077]|Juvenile polyposis syndrome [RCV000800698]|Tumor predisposition syndrome [RCV000214077]|Tumor susceptibility linked to germline BAP1 mutations [RCV000214077]
Clinical Significance: uncertain significance
Last Evaluated: 09/14/2018
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): LRG_318t1:c.1200G>T
LRG_318:g.104040G>T
NG_013013.2:g.104040G>T
NC_000018.10:g.51067079G>T
NC_000018.9:g.48593449G>T
LRG_318p1:p.Arg400Ser
NP_005350.1:p.Arg400Ser
NM_005359.5:c.1200G>T
Position
Human AssemblyChrPosition (strand)Source
GRCh381851,067,079 - 51,067,079CLINVAR
GRCh371848,593,449 - 48,593,449CLINVAR
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: 11088842
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.