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  Search Results: 4 unique variants retrieved



  c.6403C>T
p.(Arg2135*) (Legacy AA No.2116)
Variant Type:
Point
Domain:
C1
Sequence Context:
CGA > TGA
Variant Effect:
Nonsense
Location:
Exon 22
No of bases:
1
No. of cases reported:
49
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Structural Analysis cannot be performed for this type (Point | Nonsense) of mutation at Exon 22

Individual Case Information : Show


  c.6403C>G
p.(Arg2135Gly) (Legacy AA No.2116)
Variant Type:
Point
Domain:
C1
Sequence Context:
CGA > GGA
Variant Effect:
Missense
Location:
Exon 22
No of bases:
1
No. of cases reported:
5
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Individual Case Information : Show


  c.6404G>C
p.(Arg2135Pro) (Legacy AA No.2116)
Variant Type:
Point
Domain:
C1
Sequence Context:
CGA > CCA
Variant Effect:
Missense
Location:
Exon 22
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.6405_6406ins9
p.(Arg2135_Gly2136insAlaTyrGln) (Legacy AA No.2116)
Variant Type:
Insertion
Domain:
C1
Sequence Context:
Variant Effect:
Inframe
Location:
Exon 22
No of bases:
9
No. of cases reported:
1
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Structural Analysis cannot be performed for this type (Insertion | Inframe) of mutation at Exon 22

Individual Case Information : Show