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Variant : CV243075 (NM_005359.5(SMAD4):c.1215C>T (p.His405=)) Homo sapiens

Symbol: CV243075
Name: NM_005359.5(SMAD4):c.1215C>T (p.His405=)
Condition: Hereditary cancer-predisposing syndrome [RCV000572344]|Juvenile polyposis syndrome [RCV000229918]
Clinical Significance: likely benign
Last Evaluated: 11/06/2017
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: synonymous variant
Evidence: clinical testing
HGVS Name(s): LRG_318t1:c.1215C>T
LRG_318:g.104055C>T
NG_013013.2:g.104055C>T
NC_000018.10:g.51067094C>T
NC_000018.9:g.48593464C>T
LRG_318p1:p.His405=
NP_005350.1:p.His405=
NM_005359.5:c.1215C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh381851,067,094 - 51,067,094CLINVAR
GRCh371848,593,464 - 48,593,464CLINVAR
Cytogenetic Map1818q21.2CLINVAR
Trait Synonyms: Cancer predisposition; Neoplastic Syndromes, Hereditary; Tumor predisposition
Prevalence: 1-9 / 100 000



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11349282
Created: 2016-07-12
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.