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Variant : CV362878 (NM_005359.5(SMAD4):c.1065C>A (p.Asp355Glu)) Homo sapiens

Symbol: CV362878
Name: NM_005359.5(SMAD4):c.1065C>A (p.Asp355Glu)
Condition: Colorectal Neoplasms [RCV000435575]|Neoplasm of the large intestine [RCV000435575]
Clinical Significance: pathogenic
Last Evaluated: 10/02/2014
Review Status: no assertion criteria provided
Related Genes: SMAD4  
Variant Type: single nucleotide variant (SO:0001483)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: literature only
HGVS Name(s): LRG_318t1:c.1065C>A
LRG_318:g.102493C>A
NG_013013.2:g.102493C>A
NC_000018.10:g.51065532C>A
NC_000018.9:g.48591902C>A
LRG_318p1:p.Asp355Glu
NP_005350.1:p.Asp355Glu
NM_005359.5:c.1065C>A
Position
Human AssemblyChrPosition (strand)Source
GRCh381851,065,532 - 51,065,532CLINVAR
GRCh371848,591,902 - 48,591,902CLINVAR
Cytogenetic Map1818q21.2CLINVAR
Trait Synonyms: Colorectal Neoplasms; Large intestine tumor



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 12843074
Created: 2017-04-11
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.