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Variant : CV225755 (NM_005359.5(SMAD4):c.-127-4835G>A) Homo sapiens

Symbol: CV225755
Name: NM_005359.5(SMAD4):c.-127-4835G>A
Condition: Hereditary cancer-predisposing syndrome [RCV000209498]
Clinical Significance: likely benign
Last Evaluated: 12/01/2015
Review Status: no assertion criteria provided
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.-127-4835G>A
LRG_318:g.79046G>A
NG_013013.2:g.79046G>A
NC_000018.10:g.51042085G>A
NC_000018.9:g.48568455G>A
NM_005359.5:c.-127-4835G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh381851,042,085 - 51,042,085CLINVAR
GRCh371848,568,455 - 48,568,455CLINVAR
Cytogenetic Map1818q21.2CLINVAR
Trait Synonyms: Cancer predisposition; Neoplastic Syndromes, Hereditary; Tumor predisposition



Disease Annotations
References - curated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11050049
Created: 2016-04-12
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.