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Variant : CV23584 (NM_005359.5(SMAD4):c.1157G>A (p.Gly386Asp)) Homo sapiens

Symbol: CV23584
Name: NM_005359.5(SMAD4):c.1157G>A (p.Gly386Asp)
Condition: Adenocarcinoma of lung [RCV000431620]|Adenocarcinoma of prostate [RCV000443856]|Adenocarcinoma of stomach [RCV000444854]|Carcinoma of esophagus [RCV000435285]|Colorectal Neoplasms [RCV000422272]|JP and JP/HHT [RCV000021722]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV000009074]|Lung adenocarcinoma [RCV000431620]|Neoplasm of the large intestine [RCV000422272]|Oesophageal carcinoma [RCV000435285]|Pancreatic adenocarcinoma [RCV000425012]
Clinical Significance: pathogenic|likely pathogenic
Last Evaluated: 05/31/2016
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: SMAD4  
Variant Type: single nucleotide variant (SO:0001483)
Source: CLINVAR
Molecular Consequence: missense|missense variant
Evidence: literature only|clinical testing
HGVS Name(s): LRG_318t1:c.1157G>A
LRG_318:g.103997G>A
NG_013013.2:g.103997G>A
NC_000018.10:g.51067036G>A
NC_000018.9:g.48593406G>A
LRG_318p1:p.Gly386Asp
NP_005350.1:p.Gly386Asp
NM_005359.5:c.1157G>A
Q13485:p.Gly386Asp
Position
Human AssemblyChrPosition (strand)Source
GRCh381851,067,036 - 51,067,036CLINVAR
GRCh371848,593,406 - 48,593,406CLINVAR
Cytogenetic Map1818q21.2CLINVAR
Trait Synonyms: Adenocarcinoma of lung; Adenocarcinoma of lung, somatic; Colorectal Neoplasms; Esophageal carcinoma; JP/HHT SYNDROME; JUVENILE POLYPOSIS WITH HEREDITARY HEMORRHAGIC TELANGIECTASIA; Large intestine tumor; Oesophageal carcinoma; POLYPOSIS, GENERALIZED JUVENILE, WITH PULMONARY ARTERIOVENOUS MALFORMATION; TELANGIECTASIA, HEREDITARY HEMORRHAGIC, WITH JUVENILE POLYPOSIS COLI
Age Of Onset: adolescence / young adulthood|adolescent|infancy|variable
Prevalence: 1-9 / 100 000



References - curated
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8560534
Created: 2014-05-13
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.