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  Search Results: 2 unique variants retrieved



  c.250A>G
p.(Arg84Gly) (Legacy AA No.65)
Variant Type:
Point
Domain:
A1
Sequence Context:
AGG > GGG
Variant Effect:
Missense
Location:
Exon 2
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.250_255delAGGCCA
p.(Arg84_Pro85del) (Legacy AA No.65)
Variant Type:
Deletion
Domain:
A1
Sequence Context:
Variant Effect:
Inframe
Location:
Exon 2
No of bases:
6
No. of cases reported:
3
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Structural Analysis cannot be performed for this type (Deletion | Inframe) of mutation at Exon 2

Individual Case Information : Show