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  Search Results: 6 unique variants retrieved



  c.5251A>T
p.(Lys1751*) (Legacy AA No.1732)
Variant Type:
Point
Domain:
A3
Sequence Context:
AAA > TAA
Variant Effect:
Nonsense
Location:
Exon 15
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 15

Individual Case Information : Show


  c.5251A>C
p.(Lys1751Gln) (Legacy AA No.1732)
Variant Type:
Point
Domain:
A3
Sequence Context:
AAA > CAA
Variant Effect:
Missense
Location:
Exon 15
No of bases:
1
No. of cases reported:
2
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Individual Case Information : Show


  c.5251A>G
p.(Lys1751Glu) (Legacy AA No.1732)
Variant Type:
Point
Domain:
A3
Sequence Context:
AAA > GAA
Variant Effect:
Missense
Location:
Exon 15
No of bases:
1
No. of cases reported:
3
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Individual Case Information : Show


  c.5252A>G
p.(Lys1751Arg) (Legacy AA No.1732)
Variant Type:
Point
Domain:
A3
Sequence Context:
AAA > AGA
Variant Effect:
Missense
Location:
Exon 15
No of bases:
1
No. of cases reported:
3
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Individual Case Information : Show


  c.5252A>C
p.(Lys1751Thr) (Legacy AA No.1732)
Variant Type:
Point
Domain:
A3
Sequence Context:
AAA > ACA
Variant Effect:
Missense
Location:
Exon 15
No of bases:
No. of cases reported:
2
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Individual Case Information : Show


  c.5253A>T
p.(Lys1751Asn) (Legacy AA No.1732)
Variant Type:
Point
Domain:
A3
Sequence Context:
Variant Effect:
Missense
Location:
Exon 15
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 | Missense ) of mutation at Exon 15

Individual Case Information : Show