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Search Results: 2 unique variants retrieved
p.Arg212* (Legacy AA No. 152)
Variant Type:
Point
Domain:
Activation Peptide
Sequence Context:
CGA > TGA
Variant Effect:
Nonsense
Location:
Exon (7)
No of bases:
1
No. of patients reported:
11
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Structural Analysis cannot be performed for this type (Point | Nonsense) of the variant at Exon 7
Patient Information : Show
p.Arg212Gln (Legacy AA No. 152)
Variant Type:
Point
Domain:
Activation Peptide
Sequence Context:
CGA > CAA
Variant Effect:
Missense
Location:
Exon (7)
No of bases:
1
No. of patients reported:
14
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
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