Mutation Details for c.3142A>G
|
cDNA Name
|
c.3142A>G
|
Protein Name
|
p.Arg1048Gly
|
Exon or Intron
|
exon 20
|
Legacy Exon or Intron
|
exon 17b
|
|
R1048G
|
Other Details
|
The mutation was detected by DGGE analysis and characterized by direct sequencing.
We have seen it only once, in over 2100 control chromosomes from Italian population.
|
Contributors
|
Picci L., Cameran M., Marangon O., Marzenta D., Scarpa M.
2006-07-11
|
Institute
|
Lab. Genetica Molecolare Dip Pediatria, Padova, Italy
|
Submitted Phenotype Details
|
The change was found in the asymptomatic husband of a CF carrier (sister of a CF patient). The couple, origin from Germany, have a daughter (1 y) R1162X/R1048G with a negative sweat chloride test, further clinical information is not available.
|
Reference
|
|
To check if there are any papers published about this mutation/variant on PubMed, please click here.
|
|
|
|