Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Variant : CV363416 (NM_005359.5(SMAD4):c.1157G>T (p.Gly386Val)) Homo sapiens

Symbol: CV363416
Name: NM_005359.5(SMAD4):c.1157G>T (p.Gly386Val)
Condition: Adenocarcinoma of lung [RCV000438138]|Adenocarcinoma of prostate [RCV000420512]|Adenocarcinoma of stomach [RCV000436766]|Carcinoma of esophagus [RCV000430022]|Colorectal Neoplasms [RCV000427058]|Lung adenocarcinoma [RCV000438138]|Neoplasm of the large intestine [RCV000427058]|Oesophageal carcinoma [RCV000430022]|Pancreatic adenocarcinoma [RCV000443924]
Clinical Significance: likely pathogenic
Last Evaluated: 05/31/2016
Review Status: no assertion criteria provided
Related Genes: SMAD4  
Variant Type: single nucleotide variant (SO:0001483)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: literature only
HGVS Name(s): NM_005359.5:c.1157G>T
LRG_318t1:c.1157G>T
LRG_318:g.103997G>T
NG_013013.2:g.103997G>T
NC_000018.10:g.51067036G>T
NC_000018.9:g.48593406G>T
LRG_318p1:p.Gly386Val
NP_005350.1:p.Gly386Val
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; Large intestine tumor; Oesophageal carcinoma



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 12834759
Created: 2017-04-11
Species: Homo sapiens
Last Modified: 2019-12-03
Status: ACTIVE



NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.