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  Search Results: 2 unique variants retrieved



  c.2154dupC
p.(Arg719Glnfs*11) (Legacy AA No.700)
Variant Type:
Duplication
Domain:
A2
Sequence Context:
Variant Effect:
Frameshift
Location:
Exon 14
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 (Duplication | Frameshift) of mutation at Exon 14

Individual Case Information : Show


  c.2156G>C
p.(Arg719Thr) (Legacy AA No.700)
Variant Type:
Point
Domain:
A2
Sequence Context:
AGA > ACA
Variant Effect:
Missense
Location:
Exon 14
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