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  Search Results: 5 unique variants retrieved



  c.2113+1152delA
(Legacy AA No.686)
Variant Type:
Deletion
Domain:
A2
Sequence Context:
Variant Effect:
Splice
Location:
Intron 13
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 | Splice) of mutation at Intron 13

Individual Case Information : Show


  c.2113G>C
p.(Gly705Arg) (Legacy AA No.686)
Variant Type:
Point
Domain:
A2
Sequence Context:
GGT > CGT
Variant Effect:
Missense
Location:
Exon 13
No of bases:
1
No. of cases reported:
5
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Individual Case Information : Show


  c.2113G>A
p.(Gly705Ser) (Legacy AA No.686)
Variant Type:
Point
Domain:
A2
Sequence Context:
GGT > AGT
Variant Effect:
Missense
Location:
Exon 13
No of bases:
1
No. of cases reported:
4
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Individual Case Information : Show


  c.2114-2A>G
(Legacy AA No.686)
Variant Type:
Point
Domain:
Sequence Context:
Variant Effect:
Splice
Location:
Intron 13
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 | Splice) of mutation at Intron 13

Individual Case Information : Show


  c.2114G>T
p.(Gly705Val) (Legacy AA No.686)
Variant Type:
Point
Domain:
A2
Sequence Context:
GGT > GTT
Variant Effect:
Missense
Location:
Exon 14
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