Mutation Details for c.2968A>T
|
|
cDNA Name
|
c.2968A>T
|
|
Protein Name
|
p.Thr990Ser
|
|
Exon or Intron
|
exon 18
|
|
Other Details
|
This heterozygous change has been found in an Indian Patient with Chronic Pancreatitis.
|
|
Contributors and Institutes
|
| Khajuria R | - | Genetic Unit, Dept. of Pediatrics, & Dept. of Gastroenterology,All India Institute of Medical Sciences,New Delhi, INDIA | | Shashtri S | - | Genetic Unit, Dept. of Pediatrics, & Dept. of Gastroenterology,All India Institute of Medical Sciences,New Delhi, INDIA | | Garg P.K | - | Genetic Unit, Dept. of Pediatrics, & Dept. of Gastroenterology,All India Institute of Medical Sciences,New Delhi, INDIA | | Kabra M | - | Genetic Unit, Dept. of Pediatrics, & Dept. of Gastroenterology,All India Institute of Medical Sciences,New Delhi, INDIA |
|
|
Submitted Phenotype Details
|
This patient (22Year/M) was diagnosed with Idiopathic Chronic Pancreatitis at the age of 10 yrs. As CFTR gene is also involved in Chronic Pancreatitis so this patient was screened for mutations of CFTR gene by SSCP. This patient was found negative for Common DeltaF508 and intron 19 mutations of CFTR gene and common p. R122H and p. N29I mutation of PRSS1 gene. This patient was heterozygous for common N34S mutation of SPINK1 gene involved in Chronic Pancreatitis. This patient was also having other reported sequence variations c. T/G 2694, c. 3041-92G>A, p. M470V, c.1525-61 A>G of CFTR gene.
|
|
Reference
|
|
To check if there are any papers published about this mutation/variant on PubMed, please click here.
|
|
|
|
|
