Search Results: 4 unique variants retrieved
c.283A>G
p.(Ile95Val) (Legacy AA No.76)
Variant Type:
Point
Domain:
A1
Sequence Context:
ATC > GTC
Variant Effect:
Missense
Location:
Exon 3
No of bases:
No. of cases reported:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Individual Case Information :
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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
Individual Case Information :
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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
Individual Case Information :
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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
Individual Case Information :
Show