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  Search Results: 2 unique variants retrieved



  c.5063C>G
p.(Ser1688*) (Legacy AA No.1669)
Variant Type:
Point
Domain:
a3
Sequence Context:
TCA > TGA
Variant Effect:
Nonsense
Location:
Exon 14
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 14

Individual Case Information : Show


  c.5063C>T
p.(Ser1688Leu) (Legacy AA No.1669)
Variant Type:
Point
Domain:
B
Sequence Context:
Variant Effect:
Missense
Location:
Exon 14
No of bases:
No. of cases reported:
1
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Structural Analysis cannot be performed for this type (Point | Missense ) of mutation at Exon 14

Individual Case Information : Show