Data Export Options:
Search Results: 5 unique variants retrieved
c.1020_1021insCA
p.Tyr341Hisfs*14 (295)
Mutation Type:
Insertion
Domain:
Serine Protease
Nucleotide number:
31003
Mutation Effect:
Frameshift
Location:
Exon(8)
CpG:
N
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 (Insertion | Frameshift) of mutation at Exon 8.
Patient Information : Show
c.1020_1021insCA
p.Tyr341Hisfs*14 (295)
Mutation Type:
Insertion
Domain:
Serine Protease
Nucleotide number:
31003
Mutation Effect:
Frameshift
Location:
Exon(8)
CpG:
N
No. of patients reported:
2
No. of bases:
2
Structural Information
Structural Analysis is only available for missense mutations and cannot be performed for this type (Insertion | Frameshift) of mutation at Exon 8.
Patient Information : Show
c.1022A>G
p.Tyr341Cys (295)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31005
Mutation Effect:
Missense
Location:
Exon(8)
CpG:
N
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.1023C>A
p.Tyr341* (295)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31006
Mutation Effect:
Nonsense
Location:
Exon(8)
CpG:
N
No. of patients reported:
2
No. of bases:
1
Structural Information
Structural Analysis is only available for missense mutations and cannot be performed for this type (Point | Nonsense) of mutation at Exon 8.
Patient Information : Show
c.1023C>G
p.Tyr341* (295)
Mutation Type:
Point
Domain:
Serine Protease
Nucleotide number:
31006
Mutation Effect:
Nonsense
Location:
Exon(8)
CpG:
N
No. of patients reported:
2
No. of bases:
1
Structural Information
Structural Analysis is only available for missense mutations and cannot be performed for this type (Point | Nonsense) of mutation at Exon 8.