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  Search Results: 3 unique variants retrieved



  c.1292T>C
p.(Leu431Ser) (Legacy AA No.412)
Variant Type:
Point
Domain:
A2
Sequence Context:
TTG > TCG
Variant Effect:
Missense
Location:
Exon 9
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.1293delG
p.(Leu431Leufs*25) (Legacy AA No.412)
Variant Type:
Deletion
Domain:
A2
Sequence Context:
Variant Effect:
Frameshift
Location:
Exon 9
No of bases:
1
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 9

Individual Case Information : Show


  c.1293G>T
p.(Leu431Phe) (Legacy AA No.412)
Variant Type:
Point
Domain:
A2
Sequence Context:
TTG > TTT
Variant Effect:
Missense
Location:
Exon 9
No of bases:
1
No. of cases reported:
8
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Please click to see if there is the available information.

Individual Case Information : Show