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  Search Results: 3 unique variants retrieved



  c.4922dupT
p.(Glu1642Argfs*9) (Legacy AA No.1623)
Variant Type:
Duplication
Domain:
B
Sequence Context:
Variant Effect:
Frameshift
Location:
Exon 14
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 (Duplication | Frameshift) of mutation at Exon 14

Individual Case Information : Show


  c.4925A>G
p.(Glu1642Gly) (Legacy AA No.1623)
Variant Type:
Point
Domain:
B
Sequence Context:
GAA > GGA
Variant Effect:
Missense
Location:
Exon 14
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.4926delA
p.(Glu1642Glufs*21) (Legacy AA No.1623)
Variant Type:
Deletion
Domain:
B
Sequence Context:
Variant Effect:
Frameshift
Location:
Exon 14
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 14

Individual Case Information : Show