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Variant : CV468054 (NM_005359.5(SMAD4):c.1139+10G>A) Homo sapiens

Symbol: CV468054
Name: NM_005359.5(SMAD4):c.1139+10G>A
Condition: Juvenile polyposis syndrome [RCV000558885]
Clinical Significance: likely benign
Last Evaluated: 06/22/2017
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): LRG_318t1:c.1139+10G>A
NC_000018.9:g.48591986G>A
LRG_318:g.102577G>A
NG_013013.2:g.102577G>A
NC_000018.10:g.51065616G>A
NM_005359.5:c.1139+10G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh381851,065,616 - 51,065,616CLINVAR
GRCh371848,591,986 - 48,591,986CLINVAR
Cytogenetic Map1818q21.2CLINVAR



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13468530
Created: 2018-01-09
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.