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  Search Results: 4 unique variants retrieved



  c.283A>G
p.(Ile95Val) (Legacy AA No.76)
Variant Type:
Point
Domain:
A1
Sequence Context:
Variant Effect:
Missense
Location:
Exon 3
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 3

Individual Case Information : Show


  c.284T>A
p.(Ile95Asn) (Legacy AA No.76)
Variant Type:
Point
Domain:
A1
Sequence Context:
ATC > AAC
Variant Effect:
Missense
Location:
Exon 3
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.284T>G
p.(Ile95Ser) (Legacy AA No.76)
Variant Type:
Point
Domain:
A1
Sequence Context:
ATC > AGC
Variant Effect:
Missense
Location:
Exon 3
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.284T>C
p.(Ile95Thr) (Legacy AA No.76)
Variant Type:
Point
Domain:
A1
Sequence Context:
ATC > ACC
Variant Effect:
Missense
Location:
Exon 3
No of bases:
1
No. of cases reported:
2
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Please click to see if there is the available information.

Individual Case Information : Show