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  Search Results: 2 unique variants retrieved



  c.6052G>T
p.(Glu2018*) (Legacy AA No.1999)
Variant Type:
Point
Domain:
A3
Sequence Context:
GAA > TAA
Variant Effect:
Nonsense
Location:
Exon 19
No of bases:
No. of cases reported:
2
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Structural Analysis cannot be performed for this type (Point | Nonsense) of mutation at Exon 19

Individual Case Information : Show


  c.6053A>G
p.(Glu2018Gly) (Legacy AA No.1999)
Variant Type:
Point
Domain:
A3
Sequence Context:
GAA > GGA
Variant Effect:
Missense
Location:
Exon 19
No of bases:
1
No. of cases reported:
9
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Individual Case Information : Show