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  Search Results: 3 unique variants retrieved



  c.566C>A
p.(Ser189*) (Legacy AA No.170)
Variant Type:
Point
Domain:
A1
Sequence Context:
TCA > TAA
Variant Effect:
Nonsense
Location:
Exon 4
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 4

Individual Case Information : Show


  c.566C>G
p.(Ser189*) (Legacy AA No.170)
Variant Type:
Point
Domain:
A1
Sequence Context:
TCA > TGA
Variant Effect:
Nonsense
Location:
Exon 4
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 | Nonsense) of mutation at Exon 4

Individual Case Information : Show


  c.566C>T
p.(Ser189Leu) (Legacy AA No.170)
Variant Type:
Point
Domain:
A1
Sequence Context:
TCA > TTA
Variant Effect:
Missense
Location:
Exon 4
No of bases:
1
No. of cases reported:
2
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Individual Case Information : Show