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  Search Results: 4 unique variants retrieved



  c.517C>T
p.(Leu173Phe) (Legacy AA No.154)
Variant Type:
Point
Domain:
A1
Sequence Context:
CTT > TTT
Variant Effect:
Missense
Location:
Exon 4
No of bases:
1
No. of cases reported:
1
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Individual Case Information : Show


  c.517C>G
p.(Leu173Val) (Legacy AA No.154)
Variant Type:
Point
Domain:
A1
Sequence Context:
CTT > GTT
Variant Effect:
Missense
Location:
Exon 4
No of bases:
No. of cases reported:
1
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Individual Case Information : Show


  c.518T>G
p.(Leu173Arg) (Legacy AA No.154)
Variant Type:
Point
Domain:
A1
Sequence Context:
Variant Effect:
Missense
Location:
Exon 4
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 4

Individual Case Information : Show


  c.519_523delTACCT
p.(Leu173Leufs*25) (Legacy AA No.154)
Variant Type:
Deletion
Domain:
A1
Sequence Context:
Variant Effect:
Frameshift
Location:
Exon 4
No of bases:
5
No. of cases reported:
1
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Structural Analysis cannot be performed for this type (Deletion | Frameshift) of mutation at Exon 4

Individual Case Information : Show