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Search Results: 10 unique variants retrieved
large del (Legacy AA No. -60)
Variant Type:
Deletion
Domain:
Signal Peptide
Sequence Context:
Variant Effect:
Frameshift
Location:
Exon (1)
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 1
Patient Information : Show
p.Met1Val (Legacy AA No. -60)
Variant Type:
Point
Domain:
Signal Peptide
Sequence Context:
ATG > GTG
Variant Effect:
Missense
Location:
Exon (1)
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.Met1Ile (Legacy AA No. -60)
Variant Type:
Point
Domain:
Signal Peptide
Sequence Context:
ATG > ATC
Variant Effect:
Missense
Location:
Exon (1)
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.Gln4* (Legacy AA No. -57)
Variant Type:
Point
Domain:
Signal Peptide
Sequence Context:
CAG > TAG
Variant Effect:
Nonsense
Location:
Exon (1)
No of bases:
1
No. of patients reported:
2
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Structural Analysis cannot be performed for this type (Point | Nonsense) of the variant at Exon 1
Patient Information : Show
p.Leu6Serfs*41 (Legacy AA No. -55)
Variant Type:
Deletion
Domain:
Signal Peptide
Sequence Context:
Variant Effect:
Frameshift
Location:
Exon (1)
No of bases:
1
No. of patients reported:
2
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Structural Analysis cannot be performed for this type (Deletion | Frameshift) of the variant at Exon 1
Patient Information : Show
p.Cys10Profs*16 (Legacy AA No. -51)
Variant Type:
Deletion
Domain:
Signal Peptide
Sequence Context:
delCT
Variant Effect:
Frameshift
Location:
Exon (1)
No of bases:
2
No. of patients reported:
2
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Structural Analysis cannot be performed for this type (Deletion | Frameshift) of the variant at Exon 1
Patient Information : Show
p.Cys10Profs*16 (Legacy AA No. -51)
Variant Type:
Deletion
Domain:
Signal Peptide
Sequence Context:
delCT
Variant Effect:
Frameshift
Location:
Exon (1)
No of bases:
2
No. of patients reported:
2
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Structural Analysis cannot be performed for this type (Deletion | Frameshift) of the variant at Exon 1
Patient Information : Show
p.Leu12Pro (Legacy AA No. -49)
Variant Type:
Point
Domain:
Signal Peptide
Sequence Context:
CCG > CTG
Variant Effect:
Missense
Location:
Exon (1)
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.Leu13Pro (Legacy AA No. -48)
Variant Type:
Point
Domain:
Signal Peptide
Sequence Context:
CTT > CCT
Variant Effect:
Missense
Location:
Exon (1)
No of bases:
1
No. of patients reported:
3
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
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to see if there is the available information.
Patient Information : Show
p.Leu19Pro (Legacy AA No. -42)
Variant Type:
Point
Domain:
Signal Peptide
Sequence Context:
CTG > CCG
Variant Effect:
Missense
Location:
Exon (1)
No of bases:
1
No. of patients reported:
3
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Please click
here
to see if there is the available information.