Mutation Details for c.972C>G
|
|
cDNA Name
|
c.972C>G
|
|
Exon or Intron
|
exon 8
|
|
Legacy Exon or Intron
|
exon 7
|
|
|
1104(C/G)
|
|
Other Details
|
This polymorphism was identified by SCP and direct sequencing in both directions. It was observed in a mother of four deceased CF patients of Albanian origin, but not among 69 non-[delta]F508 CF and 12 normal chromosomes.
|
|
Contributors
|
Petreska L,
Koceva S,
Efremov GD
1994-04-19
|
|
Institute
|
Macedonian Academy of Sciences and Arts
Skopje, Republic of Macedonia
|
|
Submitted Phenotype Details
|
|
|
Reference
|
Petreska et al. (NL #62)
|
To check if there are any papers published about this mutation/variant on PubMed, please click here.
|
|
|
|
|
