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  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

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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

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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

Individual Case Information : Show