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  Search Results: 4 unique variants retrieved



  c.6544C>T
p.(Arg2182Cys) (Legacy AA No.2163)
Variant Type:
Point
Domain:
C1
Sequence Context:
CGC > TGC
Variant Effect:
Missense
Location:
Exon 23
No of bases:
1
No. of cases reported:
44
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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  c.6544C>G
p.(Arg2182Gly) (Legacy AA No.2163)
Variant Type:
Point
Domain:
C1
Sequence Context:
CGC > GGC
Variant Effect:
Missense
Location:
Exon 23
No of bases:
1
No. of cases reported:
1
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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  c.6545G>A
p.(Arg2182His) (Legacy AA No.2163)
Variant Type:
Point
Domain:
C1
Sequence Context:
CGC > CAC
Variant Effect:
Missense
Location:
Exon 23
No of bases:
1
No. of cases reported:
67
Allele Frequency (MAF):

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  c.6545G>T
p.(Arg2182Leu) (Legacy AA No.2163)
Variant Type:
Point
Domain:
C1
Sequence Context:
CGC > CTC
Variant Effect:
Missense
Location:
Exon 23
No of bases:
No. of cases reported:
3
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Individual Case Information : Show