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  Search Results: 3 unique variants retrieved



  c.2215G>T
p.(Glu739*) (Legacy AA No.720)
Variant Type:
Point
Domain:
a2
Sequence Context:
GAG > TAG
Variant Effect:
Nonsense
Location:
Exon 14
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 14

Individual Case Information : Show


  c.2215G>A
p.(Glu739Lys) (Legacy AA No.720)
Variant Type:
Point
Domain:
a2
Sequence Context:
GAG > AAG
Variant Effect:
Missense
Location:
Exon 14
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.2216delA
p.(Glu739Glyfs*12) (Legacy AA No.720)
Variant Type:
Deletion
Domain:
a2
Sequence Context:
Variant Effect:
Frameshift
Location:
Exon 14
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 (Deletion | Frameshift) of mutation at Exon 14

Individual Case Information : Show