Mutation Details for c.4200_4201delTG
|
|
cDNA Name
|
c.4200_4201delTG
|
|
Protein Name
|
p.Cys1400X
|
|
Exon or Intron
|
exon 26
|
|
Legacy Exon or Intron
|
exon 23
|
|
|
4332delTG
|
|
Other Details
|
This frameshift was found by DGGE and identified by direct sequencing in a CBAVD patient from Southern France who carries the R117H mutation.
It doesn't modify any restriction site.
|
|
Contributors
|
Claustres M,
Carles S
1998-12-08
|
|
Institute
|
Institut de Biologie Montpellier
|
|
Submitted Phenotype Details
|
The mutation was identified in a CBAVD 31 years old patient, PS with mild respiratory symptoms, carrying R117H-7T on the other allele. (pers. corr. Claustres)
|
|
Reference
|
Clasutres & Carles 1998
|
To check if there are any papers published about this mutation/variant on PubMed, please click here.
|
|
|
|
|
