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Variant : CV376898 (NM_005359.5(SMAD4):c.387T>C (p.Asn129=)) Homo sapiens

Symbol: CV376898
Name: NM_005359.5(SMAD4):c.387T>C (p.Asn129=)
Condition: Hereditary cancer-predisposing syndrome [RCV000572770]|not specified [RCV000443721]
Clinical Significance: likely benign
Last Evaluated: 04/17/2018
Review Status: criteria provided, multiple submitters, no conflicts|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.387T>C
LRG_318t1:c.387T>C
LRG_318:g.85784T>C
NG_013013.2:g.85784T>C
NC_000018.10:g.51048823T>C
NC_000018.9:g.48575193T>C
LRG_318p1:p.Asn129=
NP_005350.1:p.Asn129=
Position
Human AssemblyChrPosition (strand)Source
GRCh381851,048,823 - 51,048,823CLINVAR
GRCh371848,575,193 - 48,575,193CLINVAR
Cytogenetic Map1818q21.2CLINVAR
Trait Synonyms: AllHighlyPenetrant; Cancer predisposition; Neoplastic Syndromes, Hereditary; Tumor predisposition



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 12847569
Created: 2017-04-11
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.