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Variant : CV225748 (NM_005359.5(SMAD4):c.-127-135A>C) Homo sapiens

Symbol: CV225748
Name: NM_005359.5(SMAD4):c.-127-135A>C
Condition: Hereditary cancer-predisposing syndrome [RCV000209214]
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.-127-135A>C
LRG_318:g.83746A>C
NG_013013.2:g.83746A>C
NC_000018.10:g.51046785A>C
NC_000018.9:g.48573155A>C
NM_005359.5:c.-127-135A>C
Position
Human AssemblyChrPosition (strand)Source
GRCh381851,046,785 - 51,046,785CLINVAR
GRCh371848,573,155 - 48,573,155CLINVAR
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: 11049916
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.