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Variant : CV222751 (NM_005359.5(SMAD4):c.-9C>G) Homo sapiens

Symbol: CV222751
Name: NM_005359.5(SMAD4):c.-9C>G
Condition: Juvenile polyposis syndrome [RCV000204818]
Clinical Significance: uncertain significance
Last Evaluated: 08/16/2015
Review Status: criteria provided, single submitter
Related Genes: SMAD4  
Variant Type: single nucleotide variant (SO:0001483)
Source: CLINVAR
Molecular Consequence: 5 prime utr variant
Evidence: clinical testing
HGVS Name(s): LRG_318t1:c.-9C>G
LRG_318:g.83999C>G
NG_013013.2:g.83999C>G
NC_000018.10:g.51047038C>G
NC_000018.9:g.48573408C>G
NM_005359.5:c.-9C>G
Position
Human AssemblyChrPosition (strand)Source
GRCh381851,047,038 - 51,047,038CLINVAR
GRCh371848,573,408 - 48,573,408CLINVAR
Cytogenetic Map1818q21.2CLINVAR
Prevalence: 1-9 / 100 000



Disease Annotations
References - curated
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 10767502
Created: 2016-02-09
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.