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  Search Results: 2 unique variants retrieved



  c.6724G>A
p.(Val2242Met) (Legacy AA No.2223)
Variant Type:
Point
Domain:
C2
Sequence Context:
GTG > ATG
Variant Effect:
Missense
Location:
Exon 25
No of bases:
1
No. of cases reported:
4
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Individual Case Information : Show


  c.6724G>A
p.(Val2242Met) (Legacy AA No.2223)
Variant Type:
Polymorphism
Domain:
C2
Sequence Context:
GTG > ATG
Variant Effect:
Non-Synonymous
Location:
Exon 25
No of bases:
1
No. of cases reported:
4
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Structural Analysis cannot be performed for this type (Polymorphism | Non-Synonymous) of mutation at Exon 25

Individual Case Information : Show