Data Export Options:
Search Results: 3 unique variants retrieved
c.869C>T
p.Thr290Ile (244)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
30852
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
-
No. of patients reported:
1
No. of bases:
1
Structural Information
Please click
here
to show detailed structural analysis of this mutation.
Patient Information : Show
c.869delC
p.Thr290Lysfs*7 (244)
Mutation Type:
Deletion
Domain:
Serine Protease
Nucleotide number:
30852
Mutation Effect:
Frameshift
Location:
Exon(8)
CpG:
N
No. of patients reported:
4
No. of bases:
1
Structural Information
Structural Analysis is only available for missense mutations and cannot be performed for this type (Deletion | Frameshift) of mutation at Exon 8.
Patient Information : Show
c.869_870delCA
p.Thr290Argfs*20 (244)
Mutation Type:
Deletion
Domain:
Serine Protease
Nucleotide number:
30852
Mutation Effect:
Frameshift
Location:
Exon(8)
CpG:
-
No. of patients reported:
1
No. of bases:
2
Structural Information
Structural Analysis is only available for missense mutations and cannot be performed for this type (Deletion | Frameshift) of mutation at Exon 8.