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  Search Results: 2 unique variants retrieved



  c.1364T>G
p.(Phe455Cys) (Legacy AA No.436)
Variant Type:
Point
Domain:
A2
Sequence Context:
TTT > TGT
Variant Effect:
Missense
Location:
Exon 9
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


  c.1364T>C
p.(Phe455Ser) (Legacy AA No.436)
Variant Type:
Point
Domain:
A2
Sequence Context:
Variant Effect:
Missense
Location:
Exon 9
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 | Missense ) of mutation at Exon 9

Individual Case Information : Show