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  Search Results: 3 unique variants retrieved



  c.269T>G
p.(Leu90Arg) (Legacy AA No.71)
Variant Type:
Point
Domain:
A1
Sequence Context:
CTG > CGG
Variant Effect:
Missense
Location:
Exon 3
No of bases:
No. of cases reported:
1
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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  c.269T>C
p.(Leu90Pro) (Legacy AA No.71)
Variant Type:
Point
Domain:
A1
Sequence Context:
CTG > CCG
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.270delG
p.(Leu90Leufs*2) (Legacy AA No.71)
Variant Type:
Deletion
Domain:
A1
Sequence Context:
Variant Effect:
Frameshift
Location:
Exon 3
No of bases:
1
No. of cases reported:
2
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Structural Analysis cannot be performed for this type (Deletion | Frameshift) of mutation at Exon 3

Individual Case Information : Show