Mutation Details for c.172G>A
|
|
cDNA Name
|
c.172G>A
|
|
Protein Name
|
p.Asp58Asn
|
|
Exon or Intron
|
exon 3
|
|
Legacy Exon or Intron
|
exon 3
|
|
|
D58N
|
|
Other Details
|
Missense mutations D58N was found in a CBAVD patient with an yet unidentified mutation on his other allele.
|
|
Contributors
|
Dörk T,
Schmidtke J,
Stuhrmann M
1996-10-06
|
|
Institute
|
Insitut fur Humangenetik, Medezinische Hochschule Hannover,
Hannover, Germany.
|
|
Submitted Phenotype Details
|
The patient (male, 25) was diagnosed at 25 with CBAVD. He is PS, has sweat chloride of 55 mmol/l and no lung disease. He carries the 5T mutation on the other allele.
(pers.corr. Dork)
|
|
Reference
|
Dörk et al. (NL#69)
|
To check if there are any papers published about this mutation/variant on PubMed, please click here.
|
|
|
|
|
