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  Search Results: 3 unique variants retrieved



  c.5182T>C
p.(Tyr1728His) (Legacy AA No.1709)
Variant Type:
Point
Domain:
A3
Sequence Context:
TAT > CAT
Variant Effect:
Missense
Location:
Exon 14
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.5183A>G
p.(Tyr1728Cys) (Legacy AA No.1709)
Variant Type:
Point
Domain:
A3
Sequence Context:
TAT > TGT
Variant Effect:
Missense
Location:
Exon 14
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.5184T>A
p.(Tyr1728*) (Legacy AA No.1709)
Variant Type:
Point
Domain:
A3
Sequence Context:
TAT > TAA
Variant Effect:
Nonsense
Location:
Exon 14
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 (Point | Nonsense) of mutation at Exon 14

Individual Case Information : Show