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Variant : CV243076 (NM_005359.5(SMAD4):c.1447+9G>A) Homo sapiens

Symbol: CV243076
Name: NM_005359.5(SMAD4):c.1447+9G>A
Condition: Juvenile polyposis syndrome [RCV000232702]|not specified [RCV000423942]
Clinical Significance: likely benign
Last Evaluated: 11/17/2017
Review Status: criteria provided, single submitter
Related Genes: SMAD4  
Variant Type: single nucleotide variant (SO:0001483)
Source: CLINVAR
Molecular Consequence: intron variant
Evidence: clinical testing
HGVS Name(s): NM_005359.5:c.1447+9G>A
LRG_318t1:c.1447+9G>A
LRG_318:g.113746G>A
NG_013013.2:g.113746G>A
NC_000018.10:g.51076785G>A
NC_000018.9:g.48603155G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh381851,076,785 - 51,076,785CLINVAR
GRCh371848,603,155 - 48,603,155CLINVAR
Cytogenetic Map1818q21.2CLINVAR
Trait Synonyms: AllHighlyPenetrant
Prevalence: 1-9 / 100 000



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11349961
Created: 2016-07-12
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.