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  Search Results: 5 unique variants retrieved



  c.5122delC
p.(Arg1708Alafs*23) (Legacy AA No.1689)
Variant Type:
Deletion
Domain:
a3
Sequence Context:
Variant Effect:
Frameshift
Location:
Exon 14
No of bases:
1
No. of cases reported:
4
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Structural Analysis cannot be performed for this type (Deletion | Frameshift) of mutation at Exon 14

Individual Case Information : Show


  c.5122C>T
p.(Arg1708Cys) (Legacy AA No.1689)
Variant Type:
Point
Domain:
a3
Sequence Context:
CGC > TGC
Variant Effect:
Missense
Location:
Exon 14
No of bases:
1
No. of cases reported:
48
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Individual Case Information : Show


  c.5122C>A
p.(Arg1708Ser) (Legacy AA No.1689)
Variant Type:
Point
Domain:
a3
Sequence Context:
CGC > AGC
Variant Effect:
Missense
Location:
Exon 14
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.5123G>A
p.(Arg1708His) (Legacy AA No.1689)
Variant Type:
Point
Domain:
a3
Sequence Context:
CGC > CAC
Variant Effect:
Missense
Location:
Exon 14
No of bases:
1
No. of cases reported:
23
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Individual Case Information : Show


  c.5123G>T
p.(Arg1708Leu) (Legacy AA No.1689)
Variant Type:
Point
Domain:
a3
Sequence Context:
CGC > CTC
Variant Effect:
Missense
Location:
Exon 14
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