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  Search Results: 7 unique variants retrieved



  c.7033T>C
p.(Cys2345Arg) (Legacy AA No.2326)
Variant Type:
Point
Domain:
C2
Sequence Context:
TGC > CGC
Variant Effect:
Missense
Location:
Exon 26
No of bases:
No. of cases reported:
1
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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  c.7033_7040delTGCGAGGC
p.(Cys2345Thrfs*37) (Legacy AA No.2326)
Variant Type:
Deletion
Domain:
C2
Sequence Context:
Variant Effect:
Frameshift
Location:
Exon 26
No of bases:
8
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 26

Individual Case Information : Show


  c.7034G>T
p.(Cys2345Phe) (Legacy AA No.2326)
Variant Type:
Point
Domain:
C2
Sequence Context:
TGC > TTC
Variant Effect:
Missense
Location:
Exon 26
No of bases:
No. of cases reported:
1
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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  c.7034G>C
p.(Cys2345Ser) (Legacy AA No.2326)
Variant Type:
Point
Domain:
C2
Sequence Context:
TGC > TCC
Variant Effect:
Missense
Location:
Exon 26
No of bases:
1
No. of cases reported:
2
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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  c.7034G>A
p.(Cys2345Tyr) (Legacy AA No.2326)
Variant Type:
Point
Domain:
C2
Sequence Context:
TGC > TAC
Variant Effect:
Missense
Location:
Exon 26
No of bases:
1
No. of cases reported:
1
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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  c.7035C>A
p.(Cys2345*) (Legacy AA No.2326)
Variant Type:
Point
Domain:
C2
Sequence Context:
TGC > TGA
Variant Effect:
Nonsense
Location:
Exon 26
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 26

Individual Case Information : Show


  c.7035C>G
p.(Cys2345Trp) (Legacy AA No.2326)
Variant Type:
Point
Domain:
C2
Sequence Context:
TGC > TGG
Variant Effect:
Missense
Location:
Exon 26
No of bases:
No. of cases reported:
8
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Individual Case Information : Show