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  Search Results: 7 unique variants retrieved



  c.6963_6966dupGACT
p.(Arg2323Aspfs*63) (Legacy AA No.2304)
Variant Type:
Duplication
Domain:
C2
Sequence Context:
Variant Effect:
Frameshift
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 (Duplication | Frameshift) of mutation at Exon 26

Individual Case Information : Show


  c.6967C>T
p.(Arg2323Cys) (Legacy AA No.2304)
Variant Type:
Point
Domain:
C2
Sequence Context:
CGC > TGC
Variant Effect:
Missense
Location:
Exon 26
No of bases:
1
No. of cases reported:
40
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Individual Case Information : Show


  c.6967C>G
p.(Arg2323Gly) (Legacy AA No.2304)
Variant Type:
Point
Domain:
C2
Sequence Context:
CGC > GGC
Variant Effect:
Missense
Location:
Exon 26
No of bases:
1
No. of cases reported:
10
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Individual Case Information : Show


  c.6968G>A
p.(Arg2323His) (Legacy AA No.2304)
Variant Type:
Point
Domain:
C2
Sequence Context:
CGC > CAC
Variant Effect:
Missense
Location:
Exon 26
No of bases:
1
No. of cases reported:
6
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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  c.6968G>T
p.(Arg2323Leu) (Legacy AA No.2304)
Variant Type:
Point
Domain:
C2
Sequence Context:
CGC > CTC
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.6968G>C
p.(Arg2323Pro) (Legacy AA No.2304)
Variant Type:
Point
Domain:
C2
Sequence Context:
CGC > CCC
Variant Effect:
Missense
Location:
Exon 26
No of bases:
No. of cases reported:
5
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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  c.6969_6977delCTACCTTCG
p.(Tyr2324_Leu2325del) (Legacy AA No.2304)
Variant Type:
Deletion
Domain:
C2
Sequence Context:
Variant Effect:
Inframe
Location:
Exon 26
No of bases:
9
No. of cases reported:
1
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Structural Analysis cannot be performed for this type (Deletion | Inframe) of mutation at Exon 26

Individual Case Information : Show