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Variant : CV331672 (NM_005359.5(SMAD4):c.*5546_*5547insGCAC) Homo sapiens

Symbol: CV331672
Name: NM_005359.5(SMAD4):c.*5546_*5547insGCAC
Condition: Juvenile Polyposis [RCV000377106]|Myhre syndrome [RCV000342190]|Osler hemorrhagic telangiectasia syndrome [RCV000284992]
Clinical Significance: uncertain significance
Last Evaluated: 06/14/2016
Review Status: criteria provided, single submitter
Related Genes: SMAD4  
Variant Type: insertion (SO:0000667)
Source: CLINVAR
Molecular Consequence: 3 prime utr variant
Evidence: clinical testing
HGVS Name(s): LRG_318t1:c.*5546_*5547insGCAC
LRG_318:g.120974_120975insGCAC
NG_013013.2:g.120974_120975insGCAC
NC_000018.10:g.51084013_51084014insGCAC
NC_000018.9:g.48610383_48610384insGCAC
NM_005359.5:c.*5546_*5547insGCAC
Position
Human AssemblyChrPosition (strand)Source
GRCh381851,084,013 - 51,084,014CLINVAR
GRCh371848,610,383 - 48,610,384CLINVAR
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: 11615365
Created: 2017-01-11
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.