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Variant : CV479400 (NM_005359.5(SMAD4):c.905-1G>A) Homo sapiens

Symbol: CV479400
Name: NM_005359.5(SMAD4):c.905-1G>A
Condition: Hereditary cancer-predisposing syndrome [RCV000569703]
Clinical Significance: likely pathogenic
Last Evaluated: 03/18/2016
Review Status: criteria provided, single submitter
Related Genes: SMAD4  
Variant Type: single nucleotide variant (SO:0001483)
Source: CLINVAR
Molecular Consequence: splice acceptor variant
Evidence: clinical testing
HGVS Name(s): NM_005359.5:c.905-1G>A
LRG_318t1:c.905-1G>A
LRG_318:g.96826G>A
NG_013013.2:g.96826G>A
NC_000018.10:g.51059865G>A
NC_000018.9:g.48586235G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh381851,059,865 - 51,059,865CLINVAR
GRCh371848,586,235 - 48,586,235CLINVAR
Cytogenetic Map1818q21.2CLINVAR
Trait Synonyms: Cancer predisposition; Neoplastic Syndromes, Hereditary; Tumor predisposition



Disease Annotations

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13490599
Created: 2018-01-09
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.