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  Search Results: 3 unique variants retrieved



  c.5254G>A
p.(Val1752Ile) (Legacy AA No.1733)
Variant Type:
Point
Domain:
A3
Sequence Context:
GTT > ATT
Variant Effect:
Missense
Location:
Exon 15
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.5254G>C
p.(Val1752Leu) (Legacy AA No.1733)
Variant Type:
Point
Domain:
A3
Sequence Context:
GTT > CTT
Variant Effect:
Missense
Location:
Exon 15
No of bases:
No. of cases reported:
4
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Individual Case Information : Show


  c.5254delG
p.(Val1752Leufs*20) (Legacy AA No.1733)
Variant Type:
Deletion
Domain:
A3
Sequence Context:
Variant Effect:
Frameshift
Location:
Exon 15
No of bases:
1
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 15

Individual Case Information : Show