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  Search Results: 2 unique variants retrieved



  c.1030A>T
p.(Lys344*) (Legacy AA No.325)
Variant Type:
Point
Domain:
A1
Sequence Context:
AAA > 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.1030A>C
p.(Lys344Gln) (Legacy AA No.325)
Variant Type:
Point
Domain:
A1
Sequence Context:
Variant Effect:
Missense
Location:
Exon 8
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 | Missense ) of mutation at Exon 8

Individual Case Information : Show