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  Search Results: 2 unique variants retrieved



  c.5587-93C>T
(Legacy AA No.1844)
Variant Type:
Point
Domain:
A3
Sequence Context:
Variant Effect:
Splice
Location:
Intron 16
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 16

Individual Case Information : Show


  c.5587G>A
p.(Glu1863Lys) (Legacy AA No.1844)
Variant Type:
Point
Domain:
A3
Sequence Context:
GAA > AAA
Variant Effect:
Missense
Location:
Exon 17
No of bases:
1
No. of cases reported:
3
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Individual Case Information : Show