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Variant : CV185429 (NM_005359.5(SMAD4):c.102A>G (p.Thr34=)) Homo sapiens

Symbol: CV185429
Name: NM_005359.5(SMAD4):c.102A>G (p.Thr34=)
Condition: Hereditary cancer-predisposing syndrome [RCV000162365]|Juvenile polyposis syndrome [RCV000409431]|not provided [RCV000679583]|not specified [RCV000438148]
Clinical Significance: benign|likely benign|conflicting interpretations of pathogenicity
Last Evaluated: 11/28/2017
Review Status: classified by single submitter|criteria provided, conflicting interpretations|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.102A>G
LRG_318:g.84109A>G
NG_013013.2:g.84109A>G
NC_000018.10:g.51047148A>G
NC_000018.9:g.48573518A>G
p.T34T
LRG_318p1:p.Thr34=
NP_005350.1:p.Thr34=
NM_005359.5:c.102A>G
Position
Human AssemblyChrPosition (strand)Source
GRCh381851,047,148 - 51,047,148CLINVAR
GRCh371848,573,518 - 48,573,518CLINVAR
Cytogenetic Map1818q21.2CLINVAR
Trait Synonyms: AllHighlyPenetrant; Cancer predisposition; Neoplastic Syndromes, Hereditary; Tumor predisposition
Prevalence: 1-9 / 100 000



Disease Annotations
References - curated
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9850536
Created: 2015-04-07
Species: Homo sapiens
Last Modified: 2019-11-12
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.