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  Search Results: 2 unique variants retrieved



  c.6082G>T
p.(Gly2028Trp ) (Legacy AA No.2009)
Variant Type:
Point
Domain:
C1
Sequence Context:
Variant Effect:
Missense
Location:
Exon 19
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 19

Individual Case Information : Show


  c.6082G>A
p.(Gly2028Arg) (Legacy AA No.2009)
Variant Type:
Point
Domain:
A3
Sequence Context:
GGG > AGG
Variant Effect:
Missense
Location:
Exon 19
No of bases:
1
No. of cases reported:
10
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Individual Case Information : Show