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  Search Results: 4 unique variants retrieved



  c.979C>G
p.(Leu327Val) (Legacy AA No.308)
Variant Type:
Point
Domain:
A1
Sequence Context:
CTG > GTG
Variant Effect:
Missense
Location:
Exon 7
No of bases:
1
No. of cases reported:
6
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Individual Case Information : Show


  c.980T>G
p.(Leu327Arg) (Legacy AA No.308)
Variant Type:
Point
Domain:
A1
Sequence Context:
Variant Effect:
Missense
Location:
Exon 7
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 7

Individual Case Information : Show


  c.980T>A
p.(Leu327Gln) (Legacy AA No.308)
Variant Type:
Point
Domain:
A1
Sequence Context:
CTG > CAG
Variant Effect:
Missense
Location:
Exon 7
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.980T>C
p.(Leu327Pro) (Legacy AA No.308)
Variant Type:
Point
Domain:
A1
Sequence Context:
CTG > CCG
Variant Effect:
Missense
Location:
Exon 7
No of bases:
1
No. of cases reported:
2
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Individual Case Information : Show