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  Search Results: 3 unique variants retrieved



  c.6496C>T
p.(Arg2166*) (Legacy AA No.2147)
Variant Type:
Point
Domain:
C1
Sequence Context:
CGA > TGA
Variant Effect:
Nonsense
Location:
Exon 23
No of bases:
1
No. of cases reported:
54
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Structural Analysis cannot be performed for this type (Point | Nonsense) of mutation at Exon 23

Individual Case Information : Show


  c.6496C>G
p.(Arg2166Gly) (Legacy AA No.2147)
Variant Type:
Point
Domain:
C1
Sequence Context:
CGA > GGA
Variant Effect:
Missense
Location:
Exon 23
No of bases:
1
No. of cases reported:
2
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Individual Case Information : Show


  c.6497delG
p.(Arg2166Hisfs*20) (Legacy AA No.2147)
Variant Type:
Deletion
Domain:
C1
Sequence Context:
Variant Effect:
Frameshift
Location:
Exon 23
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 23

Individual Case Information : Show