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Variant : CV485194 (NM_005359.5(SMAD4):c.594A>C (p.Pro198=)) Homo sapiens

Symbol: CV485194
Name: NM_005359.5(SMAD4):c.594A>C (p.Pro198=)
Condition: Hereditary cancer-predisposing syndrome [RCV000583454]
Clinical Significance: likely benign
Last Evaluated: 10/14/2017
Review Status: 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.594A>C
LRG_318t1:c.594A>C
LRG_318:g.91881A>C
NG_013013.2:g.91881A>C
NC_000018.10:g.51054920A>C
NC_000018.9:g.48581290A>C
LRG_318p1:p.Pro198=
NP_005350.1:p.Pro198=
Position
Human AssemblyChrPosition (strand)Source
GRCh381851,054,920 - 51,054,920CLINVAR
GRCh371848,581,290 - 48,581,290CLINVAR
Cytogenetic Map1818q21.2CLINVAR
Trait Synonyms: Cancer predisposition; Neoplastic Syndromes, Hereditary; Tumor predisposition



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13512222
Created: 2018-03-06
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.