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Variant : CV36181 (NM_005359.5(SMAD4):c.1148T>A (p.Ile383Lys)) Homo sapiens

Symbol: CV36181
Name: NM_005359.5(SMAD4):c.1148T>A (p.Ile383Lys)
Condition: Jp/hht [RCV000021721]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV000021721]
Clinical Significance: pathogenic
Last Evaluated: 12/04/2012
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: SMAD4  
Variant Type: single nucleotide variant (SO:0001483)
Source: CLINVAR
Molecular Consequence: missense|missense variant
Evidence: clinical testing
HGVS Name(s): LRG_318t1:c.1148T>A
LRG_318:g.103988T>A
NG_013013.2:g.103988T>A
NC_000018.10:g.51067027T>A
NC_000018.9:g.48593397T>A
LRG_318p1:p.Ile383Lys
NP_005350.1:p.Ile383Lys
Position
Human AssemblyChrPosition (strand)Source
GRCh381851,067,027 - 51,067,027CLINVAR
GRCh371848,593,397 - 48,593,397CLINVAR
Cytogenetic Map1818q21.2CLINVAR
Trait Synonyms: JP/HHT SYNDROME; JUVENILE POLYPOSIS WITH HEREDITARY HEMORRHAGIC TELANGIECTASIA; POLYPOSIS, GENERALIZED JUVENILE, WITH PULMONARY ARTERIOVENOUS MALFORMATION; TELANGIECTASIA, HEREDITARY HEMORRHAGIC, WITH JUVENILE POLYPOSIS COLI
Age Of Onset: adolescent|infancy|variable
Prevalence: 1-9 / 100 000



Disease Annotations
References - curated
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8567640
Created: 2014-05-13
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.