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  Search Results: 4 unique variants retrieved



  c.1009G>T
p.(Asp337Tyr) (Legacy AA No.318)
Variant Type:
Point
Domain:
A1
Sequence Context:
GAT > TAT
Variant Effect:
Missense
Location:
Exon 7
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.1009+3A>T
(Legacy AA No.318)
Variant Type:
Point
Domain:
A1
Sequence Context:
Variant Effect:
Splice
Location:
Intron 7
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 7

Individual Case Information : Show


  c.1011_1012delTG
p.(Asp337Glufs*22) (Legacy AA No.318)
Variant Type:
Deletion
Domain:
A1
Sequence Context:
Variant Effect:
Frameshift
Location:
Exon 8
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 8

Individual Case Information : Show


  c.1271+1G>T
(Legacy AA No.318)
Variant Type:
Point
Domain:
A1
Sequence Context:
Variant Effect:
Splicing
Location:
Intron 8
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 | Splicing ) of mutation at Intron 8

Individual Case Information : Show