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  Search Results: 4 unique variants retrieved



  c.5563delG
p.(Ala1855Leufs*16) (Legacy AA No.1836)
Variant Type:
Deletion
Domain:
A3
Sequence Context:
Variant Effect:
Frameshift
Location:
Exon 16
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 16

Individual Case Information : Show


  c.5563G>A
p.(Ala1855Thr) (Legacy AA No.1836)
Variant Type:
Point
Domain:
A3
Sequence Context:
GCT > ACT
Variant Effect:
Missense
Location:
Exon 16
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.5564C>A
p.(Ala1855Asp) (Legacy AA No.1836)
Variant Type:
Point
Domain:
A3
Sequence Context:
GCT > GAT
Variant Effect:
Missense
Location:
Exon 16
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


  c.5564_5567delCTTA
p.(Ala1855Valfs*15) (Legacy AA No.1836)
Variant Type:
Deletion
Domain:
A3
Sequence Context:
Variant Effect:
Frameshift
Location:
Exon 16
No of bases:
4
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 16

Individual Case Information : Show