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  Search Results: 6 unique variants retrieved



  c.5662A>T
p.(Arg1888*) (Legacy AA No.1869)
Variant Type:
Point
Domain:
A3
Sequence Context:
AGA > TGA
Variant Effect:
Nonsense
Location:
Exon 17
No of bases:
1
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 17

Individual Case Information : Show


  c.5662A>G
p.(Arg1888Gly) (Legacy AA No.1869)
Variant Type:
Point
Domain:
A3
Sequence Context:
AGA > GGA
Variant Effect:
Missense
Location:
Exon 17
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.5662dupA
p.(Arg1888Lysfs*15) (Legacy AA No.1869)
Variant Type:
Duplication
Domain:
A3
Sequence Context:
Variant Effect:
Frameshift
Location:
Exon 17
No of bases:
1
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 17

Individual Case Information : Show


  c.5663G>T
p.(Arg1888Ile) (Legacy AA No.1869)
Variant Type:
Point
Domain:
A3
Sequence Context:
AGA > ATA
Variant Effect:
Missense
Location:
Exon 17
No of bases:
1
No. of cases reported:
8
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Individual Case Information : Show


  c.5663G>C
p.(Arg1888Thr) (Legacy AA No.1869)
Variant Type:
Point
Domain:
A3
Sequence Context:
AGA > ACA
Variant Effect:
Missense
Location:
Exon 17
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.5664A>T
p.(Arg1888Ser) (Legacy AA No.1869)
Variant Type:
Point
Domain:
A3
Sequence Context:
AGA > AGT
Variant Effect:
Missense
Location:
Exon 17
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