Search Results: 4 unique variants retrieved
c.349_350insGT
p.(Leu117Argfs*45) (Legacy AA No.98)
Variant Type:
Insertion
Domain:
A1
Sequence Context:
Variant Effect:
Frameshift
Location:
Exon 3
No of bases:
2
No. of cases reported:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Structural Analysis cannot be performed for this type (Insertion | Frameshift) of mutation at Exon 3
Individual Case Information :
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c.349C>T
p.(Leu117Phe) (Legacy AA No.98)
Variant Type:
Point
Domain:
A1
Sequence Context:
CTT > TTT
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.350T>G
p.(Leu117Arg) (Legacy AA No.98)
Variant Type:
Point
Domain:
A1
Sequence Context:
CTT > CGT
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.350T>C
p.(Leu117Pro) (Legacy AA No.98)
Variant Type:
Point
Domain:
A1
Sequence Context:
CTT > CCT
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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