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  Search Results: 2 unique variants retrieved



  c.796G>T
p.(Gly266*) (Legacy AA No.247)
Variant Type:
Point
Domain:
A1
Sequence Context:
GGA > TGA
Variant Effect:
Nonsense
Location:
Exon 7
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 (Point | Nonsense) of mutation at Exon 7

Individual Case Information : Show


  c.797G>A
p.(Gly266Glu) (Legacy AA No.247)
Variant Type:
Point
Domain:
A1
Sequence Context:
GGA > GAA
Variant Effect:
Missense
Location:
Exon 7
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