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Variant : CV550879 (NM_005359.5(SMAD4):c.290G>T (p.Arg97Leu)) Homo sapiens

Symbol: CV550879
Name: NM_005359.5(SMAD4):c.290G>T (p.Arg97Leu)
Condition: Heritable Thoracic Aortic Disease [RCV000678041]
Clinical Significance: likely pathogenic
Last Evaluated: 04/01/2018
Review Status: criteria provided, single submitter
Related Genes: SMAD4  
Variant Type: single nucleotide variant (SO:0001483)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: research
HGVS Name(s): LRG_318t1:c.290G>T
LRG_318:g.85687G>T
NG_013013.2:g.85687G>T
NC_000018.10:g.51048726G>T
NC_000018.9:g.48575096G>T
NP_005350.1:p.Arg97Leu
LRG_318p1:p.Arg97Leu
NM_005359.5:c.290G>T
Position
Human AssemblyChrPosition (strand)Source
GRCh381851,048,726 - 51,048,726CLINVAR
GRCh371848,575,096 - 48,575,096CLINVAR
Cytogenetic Map1818q21.2CLINVAR



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13785972
Created: 2018-09-11
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.