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  Search Results: 4 unique variants retrieved



  c.214G>T
p.(Glu72*) (Legacy AA No.53)
Variant Type:
Point
Domain:
A1
Sequence Context:
GAA > TAA
Variant Effect:
Nonsense
Location:
Exon 2
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 2

Individual Case Information : Show


  c.214G>C
p.(Glu72Gln) (Legacy AA No.53)
Variant Type:
Point
Domain:
A1
Sequence Context:
Variant Effect:
Missense
Location:
Exon 2
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 2

Individual Case Information : Show


  c.214G>A
p.(Glu72Lys) (Legacy AA No.53)
Variant Type:
Point
Domain:
A1
Sequence Context:
GAA > AAA
Variant Effect:
Missense
Location:
Exon 2
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.216A>C
p.(Glu72 ) (Legacy AA No.53)
Variant Type:
Point
Domain:
A1
Sequence Context:
GAA > GAC
Variant Effect:
Missense
Location:
Exon 2
No of bases:
1
No. of cases reported:
1
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Please click to see if there is the available information.

Individual Case Information : Show