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  Search Results: 3 unique variants retrieved



  c.5918A>G
p.(His1973Arg) (Legacy AA No.1954)
Variant Type:
Point
Domain:
A3
Sequence Context:
CAT > CGT
Variant Effect:
Missense
Location:
Exon 18
No of bases:
No. of cases reported:
2
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Individual Case Information : Show


  c.5918A>T
p.(His1973Leu) (Legacy AA No.1954)
Variant Type:
Point
Domain:
A3
Sequence Context:
CAT > CTT
Variant Effect:
Missense
Location:
Exon 18
No of bases:
1
No. of cases reported:
6
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Individual Case Information : Show


  c.5918A>C
p.(His1973Pro) (Legacy AA No.1954)
Variant Type:
Point
Domain:
A3
Sequence Context:
CAT > CCT
Variant Effect:
Missense
Location:
Exon 18
No of bases:
No. of cases reported:
2
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Individual Case Information : Show