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  Search Results: 7 unique variants retrieved



  c.6742T>A
p.(Trp2248Arg) (Legacy AA No.2229)
Variant Type:
Point
Domain:
C2
Sequence Context:
TGG > AGG
Variant Effect:
Missense
Location:
Exon 25
No of bases:
No. of cases reported:
1
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Individual Case Information : Show


  c.6742T>C
p.(Trp2248Arg) (Legacy AA No.2229)
Variant Type:
Point
Domain:
C2
Sequence Context:
TGG > CGG
Variant Effect:
Missense
Location:
Exon 25
No of bases:
No. of cases reported:
3
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Individual Case Information : Show


  c.6742dupT
p.(Trp2248Leufs*137) (Legacy AA No.2229)
Variant Type:
Duplication
Domain:
C2
Sequence Context:
Variant Effect:
Frameshift
Location:
Exon 25
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 (Duplication | Frameshift) of mutation at Exon 25

Individual Case Information : Show


  c.6743G>A
p.(Trp2248*) (Legacy AA No.2229)
Variant Type:
Point
Domain:
C2
Sequence Context:
TGG > TAG
Variant Effect:
Nonsense
Location:
Exon 25
No of bases:
No. of cases reported:
2
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Structural Analysis cannot be performed for this type (Point | Nonsense) of mutation at Exon 25

Individual Case Information : Show


  c.6743G>C
p.(Trp2248Ser) (Legacy AA No.2229)
Variant Type:
Point
Domain:
C2
Sequence Context:
TGG > TCG
Variant Effect:
Missense
Location:
Exon 25
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.6744G>A
p.(Trp2248*) (Legacy AA No.2229)
Variant Type:
Point
Domain:
C2
Sequence Context:
TGG > TGA
Variant Effect:
Nonsense
Location:
Exon 25
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 | Nonsense) of mutation at Exon 25

Individual Case Information : Show


  c.6744G>T
p.(Trp2248Cys) (Legacy AA No.2229)
Variant Type:
Point
Domain:
C2
Sequence Context:
TGG > TGT
Variant Effect:
Missense
Location:
Exon 25
No of bases:
1
No. of cases reported:
43
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Individual Case Information : Show