Data Display Options:
Search Results: 5 unique variants retrieved
c.6429+1G>T
(Legacy AA No.2126)
Variant Type:
Point
Domain:
Sequence Context:
Variant Effect:
Splice
Location:
Intron 22
No of bases:
No. of cases reported:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Structural Analysis cannot be performed for this type (Point | Splice) of mutation at Intron 22
Individual Case Information : Show
c.6434T>G
p.(Phe2145Cys) (Legacy AA No.2126)
Variant Type:
Point
Domain:
C1
Sequence Context:
TTC > TGC
Variant Effect:
Missense
Location:
Exon 23
No of bases:
1
No. of cases reported:
7
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Individual Case Information : Show
c.6434T>C
p.(Phe2145Ser) (Legacy AA No.2126)
Variant Type:
Point
Domain:
C1
Sequence Context:
TTC > TCC
Variant Effect:
Missense
Location:
Exon 23
No of bases:
1
No. of cases reported:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Individual Case Information : Show
c.6434delT
p.(Phe2145Serfs*10) (Legacy AA No.2126)
Variant Type:
Deletion
Domain:
C1
Sequence Context:
Variant Effect:
Frameshift
Location:
Exon 23
No of bases:
No. of cases reported:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Structural Analysis cannot be performed for this type (Deletion | Frameshift) of mutation at Exon 23
Individual Case Information : Show
c.6435_6437delCTT
p.(Phe2145del) (Legacy AA No.2126)
Variant Type:
Deletion
Domain:
C1
Sequence Context:
Variant Effect:
Inframe
Location:
Exon 23
No of bases:
No. of cases reported:
6
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Structural Analysis cannot be performed for this type (Deletion | Inframe) of mutation at Exon 23