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  Search Results: 3 unique variants retrieved



  c.1537G>A
p.(Gly513Ser) (Legacy AA No.494)
Variant Type:
Point
Domain:
A2
Sequence Context:
GGT > AGT
Variant Effect:
Missense
Location:
Exon 10
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.1538-1G>A
(Legacy AA No.494)
Variant Type:
Point
Domain:
A2
Sequence Context:
Variant Effect:
Splice
Location:
Intron 10
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 10

Individual Case Information : Show


  c.1538G>T
p.(Gly513Val) (Legacy AA No.494)
Variant Type:
Point
Domain:
A2
Sequence Context:
GGT > GTT
Variant Effect:
Missense
Location:
Exon 11
No of bases:
No. of cases reported:
2
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Individual Case Information : Show