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  Search Results: 2 unique variants retrieved



  c.1804C>T
p.(Arg602*) (Legacy AA No.583)
Variant Type:
Point
Domain:
A2
Sequence Context:
CGA > TGA
Variant Effect:
Nonsense
Location:
Exon 12
No of bases:
1
No. of cases reported:
37
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Structural Analysis cannot be performed for this type (Point | Nonsense) of mutation at Exon 12

Individual Case Information : Show


  c.1804C>G
p.(Arg602Gly) (Legacy AA No.583)
Variant Type:
Point
Domain:
A2
Sequence Context:
CGA > GGA
Variant Effect:
Missense
Location:
Exon 12
No of bases:
1
No. of cases reported:
33
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Individual Case Information : Show