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Variant : CV348633 (NM_005359.5(SMAD4):c.*4987T>C) Homo sapiens

Symbol: CV348633
Name: NM_005359.5(SMAD4):c.*4987T>C
Condition: Juvenile Polyposis [RCV000368297]|Myhre syndrome [RCV000333418]|Osler hemorrhagic telangiectasia syndrome [RCV000276001]
Clinical Significance: uncertain significance
Last Evaluated: 06/14/2016
Review Status: criteria provided, single submitter
Related Genes: SMAD4  
Variant Type: single nucleotide variant (SO:0001483)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): LRG_318t1:c.*4987T>C
LRG_318:g.120415T>C
NG_013013.2:g.120415T>C
NC_000018.10:g.51083454T>C
NC_000018.9:g.48609824T>C
NM_005359.5:c.*4987T>C
Position
Human AssemblyChrPosition (strand)Source
GRCh381851,083,454 - 51,083,454CLINVAR
GRCh371848,609,824 - 48,609,824CLINVAR
Cytogenetic Map1818q21.2CLINVAR
Trait Synonyms: Laryngotracheal stenosis, progressive, with short stature and arthropathy; TELANGIECTASIA, HEREDITARY HEMORRHAGIC, OF RENDU, OSLER, AND WEBER; TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1
Age Of Onset: childhood
Prevalence: 1:10,000|<1 / 1 000 000



Disease Annotations

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11627100
Created: 2017-01-11
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.