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  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 : Show


  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

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Individual Case Information : Show


  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

Please click to see if there is the available information.

Individual Case Information : Show


  c.350T>C
p.(Leu117Pro) (Legacy AA No.98)
Variant Type:
Point
Domain:
A1
Sequence Context:
Variant Effect:
Missense
Location:
Exon 3
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 3

Individual Case Information : Show