Data Display Options:
Search Results: 5 unique variants retrieved
c.274G>T
p.(Gly92Cys) (Legacy AA No.73)
Variant Type:
Point
Domain:
A1
Sequence Context:
GGT > TGT
Variant Effect:
Missense
Location:
Exon 3
No of bases:
No. of cases reported:
2
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Individual Case Information : Show
c.274G>A
p.(Gly92Ser) (Legacy AA No.73)
Variant Type:
Point
Domain:
A1
Sequence Context:
GGT > AGT
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
c.275G>C
p.(Gly92Ala) (Legacy AA No.73)
Variant Type:
Point
Domain:
A1
Sequence Context:
GGT > GCT
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
c.275G>A
p.(Gly92Asp) (Legacy AA No.73)
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.275G>T
p.(Gly92Val) (Legacy AA No.73)
Variant Type:
Point
Domain:
A1
Sequence Context:
GGT > GTT
Variant Effect:
Missense
Location:
Exon 3
No of bases:
1
No. of cases reported:
2
Allele Frequency (MAF):