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  Search Results: 4 unique variants retrieved



  c.207_208delGT
p.(Phe70Leufs*12) (Legacy AA No.51)
Variant Type:
Deletion
Domain:
A1
Sequence Context:
Variant Effect:
Frameshift
Location:
Exon 2
No of bases:
2
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 2

Individual Case Information : Show


  c.209_212delTTGT
p.(Phe70*) (Legacy AA No.51)
Variant Type:
Deletion
Domain:
A1
Sequence Context:
Variant Effect:
Frameshift
Location:
Exon 2
No of bases:
4
No. of cases reported:
36
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Structural Analysis cannot be performed for this type (Deletion | Frameshift) of mutation at Exon 2

Individual Case Information : Show


  c.209T>C
p.(Phe70Ser) (Legacy AA No.51)
Variant Type:
Point
Domain:
A1
Sequence Context:
TTT > TCT
Variant Effect:
Missense
Location:
Exon 2
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.265+3A>G
(Legacy AA No.51)
Variant Type:
Point
Domain:
A1
Sequence Context:
Variant Effect:
Splice
Location:
Intron 2
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 2

Individual Case Information : Show