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  Search Results: 2 unique variants retrieved



  c.1485delC
p.(Pro496Leufs*19) (Legacy AA No.477)
Variant Type:
Deletion
Domain:
A2
Sequence Context:
Variant Effect:
Frameshift
Location:
Exon 10
No of bases:
1
No. of cases reported:
3
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Structural Analysis cannot be performed for this type (Deletion | Frameshift) of mutation at Exon 10

Individual Case Information : Show


  c.1487C>G
p.(Pro496Arg) (Legacy AA No.477)
Variant Type:
Point
Domain:
A2
Sequence Context:
CCT > CGT
Variant Effect:
Missense
Location:
Exon 10
No of bases:
1
No. of cases reported:
3
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Individual Case Information : Show