Search Results: 3 unique variants retrieved
c.871G>T
p.(Glu291*) (Legacy AA No.272)
Variant Type:
Point
Domain:
A1
Sequence Context:
GAA > TAA
Variant Effect:
Nonsense
Location:
Exon 7
No of bases:
1
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 7
Individual Case Information :
Show
(presumed 1-st) |
(2-st/Chr) |
(1-st/2-st) |
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c.872A>G
p.(Glu291Gly) (Legacy AA No.272)
Variant Type:
Point
Domain:
A1
Sequence Context:
GAA > GGA
Variant Effect:
Missense
Location:
Exon 7
No of bases:
1
No. of cases reported:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Individual Case Information :
Show
(presumed 1-st) |
(2-st/Chr) |
(1-st/2-st) |
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---|---|---|---|---|---|---|---|---|---|---|
c.873G>A
p.(Glu291Lys) (Legacy AA No.272)
Variant Type:
Point
Domain:
A1
Sequence Context:
GAA > AAA
Variant Effect:
Missense
Location:
Exon 7
No of bases:
1
No. of cases reported:
41
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Individual Case Information :
Show
(presumed 1-st) |
(2-st/Chr) |
(1-st/2-st) |
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