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Search Results: 18 unique variants retrieved
p.Phe64Leu (Legacy AA No. 4)
Variant Type:
Point
Domain:
Gla
Sequence Context:
TTC > CTC
Variant Effect:
Missense
Location:
Exon (3)
No of bases:
1
No. of patients reported:
2
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
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p.Leu73Gln (Legacy AA No. 13)
Variant Type:
Point
Domain:
Gla
Sequence Context:
CTG > CAG
Variant Effect:
Missense
Location:
Exon (3)
No of bases:
1
No. of patients reported:
4
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
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p.Glu76Lys (Legacy AA No. 16)
Variant Type:
Point
Domain:
Gla
Sequence Context:
GAG > AAG
Variant Effect:
Missense
Location:
Exon (3)
No of bases:
1
No. of patients reported:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
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p.Glu79Gln (Legacy AA No. 19)
Variant Type:
Point
Domain:
Gla
Sequence Context:
GAG > CAG
Variant Effect:
Missense
Location:
Exon (3)
No of bases:
1
No. of patients reported:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
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p.Cys82Arg (Legacy AA No. 22)
Variant Type:
Point
Domain:
Gla
Sequence Context:
CGC > TGC
Variant Effect:
Missense
Location:
Exon (3)
No of bases:
1
No. of patients reported:
6
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
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p.Cys82Phe (Legacy AA No. 22)
Variant Type:
Point
Domain:
Gla
Sequence Context:
TGC > TTC
Variant Effect:
Missense
Location:
Exon (3)
No of bases:
1
No. of patients reported:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
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p.Cys82Tyr (Legacy AA No. 22)
Variant Type:
Point
Domain:
Gla
Sequence Context:
TAC > TGC
Variant Effect:
Missense
Location:
Exon (3)
No of bases:
1
No. of patients reported:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
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Patient Information : Show
p.Ser83Pro (Legacy AA No. 23)
Variant Type:
Point
Domain:
Gla
Sequence Context:
TCC > CCC
Variant Effect:
Missense
Location:
Exon (3)
No of bases:
1
No. of patients reported:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
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p.Phe84del (Legacy AA No. 24)
Variant Type:
Deletion
Domain:
Gla
Sequence Context:
del TTC
Variant Effect:
Inframe
Location:
Exon (3)
No of bases:
3
No. of patients reported:
3
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Structural Analysis cannot be performed for this type (Deletion | Inframe) of the variant at Exon 3
Patient Information : Show
p.Glu85Lys (Legacy AA No. 25)
Variant Type:
Point
Domain:
Gla
Sequence Context:
GAG > AAG
Variant Effect:
Missense
Location:
Exon (3)
No of bases:
1
No. of patients reported:
2
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
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p.Glu86* (Legacy AA No. 26)
Variant Type:
Point
Domain:
Gla
Sequence Context:
GAG > TAG
Variant Effect:
Nonsense
Location:
Exon (3)
No of bases:
1
No. of patients reported:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Structural Analysis cannot be performed for this type (Point | Nonsense) of the variant at Exon 3
Patient Information : Show
p.Arg88Gly (Legacy AA No. 28)
Variant Type:
Point
Domain:
Gla
Sequence Context:
CGG > GGG
Variant Effect:
Missense
Location:
Exon (3)
No of bases:
1
No. of patients reported:
3
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
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Patient Information : Show
p.Glu89Lys (Legacy AA No. 29)
Variant Type:
Point
Domain:
Gla
Sequence Context:
AAG > GAG
Variant Effect:
Missense
Location:
Exon (3)
No of bases:
1
No. of patients reported:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
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Patient Information : Show
(Legacy AA No. 0)
Variant Type:
Point
Domain:
Gla
Sequence Context:
Variant Effect:
Intronic
Location:
Intron (3)
No of bases:
1
No. of patients reported:
3
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Structural Analysis cannot be performed for this type (Point | Intronic) of the variant at Intron 3
Patient Information : Show
p.Thr97= (Legacy AA No. 37)
Variant Type:
Point
Domain:
Gla
Sequence Context:
Variant Effect:
Frameshift
Location:
Exon (3)
No of bases:
1
No. of patients reported:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Structural Analysis cannot be performed for this type (Point | Frameshift) of the variant at Exon 3
Patient Information : Show
(Legacy AA No. 0)
Variant Type:
Point
Domain:
Gla
Sequence Context:
Variant Effect:
Intronic
Location:
Intron (4)
No of bases:
1
No. of patients reported:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Structural Analysis cannot be performed for this type (Point | Intronic) of the variant at Intron 4
Patient Information : Show
???? (Legacy AA No. 38)
Variant Type:
Deletion
Domain:
Gla
Sequence Context:
Variant Effect:
Frameshift
Location:
Exon (4)
No of bases:
0
No. of patients reported:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Structural Analysis cannot be performed for this type (Deletion | Frameshift) of the variant at Exon 4
Patient Information : Show
p.Trp101Cys (Legacy AA No. 41)
Variant Type:
Point
Domain:
Gla
Sequence Context:
TGC > TGG
Variant Effect:
Missense
Location:
Exon (4)
No of bases:
1
No. of patients reported:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
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to see if there is the available information.