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  Search Results: 5 unique variants retrieved



  c.6976C>T
p.(Arg2326*) (Legacy AA No.2307)
Variant Type:
Point
Domain:
C2
Sequence Context:
CGA > TGA
Variant Effect:
Nonsense
Location:
Exon 26
No of bases:
1
No. of cases reported:
29
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Structural Analysis cannot be performed for this type (Point | Nonsense) of mutation at Exon 26

Individual Case Information : Show


  c.6976C>G
p.(Arg2326Gly) (Legacy AA No.2307)
Variant Type:
Point
Domain:
C2
Sequence Context:
CGA > GGA
Variant Effect:
Missense
Location:
Exon 26
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.6977G>A
p.(Arg2326Gln) (Legacy AA No.2307)
Variant Type:
Point
Domain:
C2
Sequence Context:
CGA > CAA
Variant Effect:
Missense
Location:
Exon 26
No of bases:
1
No. of cases reported:
48
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Individual Case Information : Show


  c.6977G>T
p.(Arg2326Leu) (Legacy AA No.2307)
Variant Type:
Point
Domain:
C2
Sequence Context:
CGA > CTA
Variant Effect:
Missense
Location:
Exon 26
No of bases:
1
No. of cases reported:
15
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Individual Case Information : Show


  c.6977G>C
p.(Arg2326Pro) (Legacy AA No.2307)
Variant Type:
Point
Domain:
C2
Sequence Context:
CGA > CCA
Variant Effect:
Missense
Location:
Exon 26
No of bases:
1
No. of cases reported:
3
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Please click to see if there is the available information.

Individual Case Information : Show