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Variant : CV532319 (NM_005359.5(SMAD4):c.615G>A (p.Glu205=)) Homo sapiens

Symbol: CV532319
Name: NM_005359.5(SMAD4):c.615G>A (p.Glu205=)
Condition: Juvenile polyposis syndrome [RCV000635513]
Clinical Significance: likely benign
Last Evaluated: 01/04/2018
Review Status: criteria provided, single submitter
Related Genes: SMAD4  
Variant Type: single nucleotide variant (SO:0001483)
Source: CLINVAR
Molecular Consequence: synonymous variant
Evidence: clinical testing
HGVS Name(s): NM_005359.5:c.615G>A
LRG_318t1:c.615G>A
LRG_318:g.91902G>A
NG_013013.2:g.91902G>A
NC_000018.10:g.51054941G>A
NC_000018.9:g.48581311G>A
LRG_318p1:p.Glu205=
NP_005350.1:p.Glu205=
Position
Human AssemblyChrPosition (strand)Source
GRCh381851,054,941 - 51,054,941CLINVAR
GRCh371848,581,311 - 48,581,311CLINVAR
Cytogenetic Map1818q21.2CLINVAR



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13619209
Created: 2018-06-12
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.