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  Search Results: 2 unique variants retrieved



  c.5302C>T
p.(Arg1768Cys) (Legacy AA No.1749)
Variant Type:
Point
Domain:
A3
Sequence Context:
CGT > TGT
Variant Effect:
Missense
Location:
Exon 15
No of bases:
1
No. of cases reported:
4
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Individual Case Information : Show


  c.5303G>A
p.(Arg1768His) (Legacy AA No.1749)
Variant Type:
Point
Domain:
A3
Sequence Context:
CGT > CAT
Variant Effect:
Missense
Location:
Exon 15
No of bases:
1
No. of cases reported:
8
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Please click to see if there is the available information.

Individual Case Information : Show