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  Search Results: 4 unique variants retrieved



  c.1174T>C
p.(Ser392Pro) (Legacy AA No.373)
Variant Type:
Point
Domain:
a1
Sequence Context:
TCA > CCA
Variant Effect:
Missense
Location:
Exon 8
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.1175C>A
p.(Ser392*) (Legacy AA No.373)
Variant Type:
Point
Domain:
a1
Sequence Context:
TCA > TAA
Variant Effect:
Nonsense
Location:
Exon 8
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 8

Individual Case Information : Show


  c.1175C>G
p.(Ser392*) (Legacy AA No.373)
Variant Type:
Point
Domain:
a1
Sequence Context:
TCA > TGA
Variant Effect:
Nonsense
Location:
Exon 8
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 8

Individual Case Information : Show


  c.1175C>T
p.(Ser392Leu) (Legacy AA No.373)
Variant Type:
Point
Domain:
a1
Sequence Context:
TCA > TTA
Variant Effect:
Missense
Location:
Exon 8
No of bases:
1
No. of cases reported:
4
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Please click to see if there is the available information.

Individual Case Information : Show