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Variant : CV151879 (NM_005359.5(SMAD4):c.1106A>G (p.Asn369Ser)) Homo sapiens

Symbol: CV151879
Name: NM_005359.5(SMAD4):c.1106A>G (p.Asn369Ser)
Condition: Hereditary cancer-predisposing syndrome [RCV000131130]|Juvenile polyposis syndrome [RCV000555043]|Myhre syndrome [RCV000764163]|Neoplastic Syndromes, Hereditary [RCV000131130]|not provided [RCV000679584]
Clinical Significance: uncertain significance
Last Evaluated: 01/05/2019
Review Status: classified by single submitter|criteria provided, multiple submitters, no conflicts|criteria provided, single submitter
Related Genes: SMAD4  
Variant Type: single nucleotide variant (SO:0001483)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): NM_005359.5:c.1106A>G
LRG_318t1:c.1106A>G
LRG_318:g.102534A>G
NG_013013.2:g.102534A>G
NC_000018.10:g.51065573A>G
NC_000018.9:g.48591943A>G
p.N369S
LRG_318p1:p.Asn369Ser
NP_005350.1:p.Asn369Ser
Position
Human AssemblyChrPosition (strand)Source
GRCh381851,065,573 - 51,065,573CLINVAR
GRCh371848,591,943 - 48,591,943CLINVAR
Cytogenetic Map1818q21.2CLINVAR
Trait Synonyms: Cancer predisposition; Carcinoma of pancreas; JP/HHT SYNDROME; Juvenile polyposis syndrome; JUVENILE POLYPOSIS WITH HEREDITARY HEMORRHAGIC TELANGIECTASIA; Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome; Laryngotracheal stenosis, progressive, with short stature and arthropathy; Neoplastic Syndromes, Hereditary; PANCREATIC ACINAR CARCINOMA; Pancreatic cancer; Pancreatic cancer, somatic; PANCREATIC CARCINOMA; Pancreatic carcinoma, somatic; POLYPOSIS, GENERALIZED JUVENILE, WITH PULMONARY ARTERIOVENOUS MALFORMATION; TELANGIECTASIA, HEREDITARY HEMORRHAGIC, WITH JUVENILE POLYPOSIS COLI; Tumor predisposition



Disease Annotations
References - curated
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8697776
Created: 2014-08-12
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.