Search Results: 3 unique variants retrieved
c.1834C>T
p.(Arg612Cys) (Legacy AA No.593)
Variant Type:
Point
Domain:
A2
Sequence Context:
CGC > TGC
Variant Effect:
Missense
Location:
Exon 12
No of bases:
1
No. of cases reported:
242
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Individual Case Information :
Show
(presumed 1-st) |
(2-st/Chr) |
(1-st/2-st) |
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c.1835G>A
p.(Arg612His) (Legacy AA No.593)
Variant Type:
Point
Domain:
A2
Sequence Context:
CGC > CAC
Variant Effect:
Missense
Location:
Exon 12
No of bases:
No. of cases reported:
3
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Individual Case Information :
Show
(presumed 1-st) |
(2-st/Chr) |
(1-st/2-st) |
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---|---|---|---|---|---|---|---|---|---|---|
c.1835G>C
p.(Arg612Pro) (Legacy AA No.593)
Variant Type:
Point
Domain:
A2
Sequence Context:
CGC > CCC
Variant Effect:
Missense
Location:
Exon 12
No of bases:
1
No. of cases reported:
3
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Individual Case Information :
Show
(presumed 1-st) |
(2-st/Chr) |
(1-st/2-st) |
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---|---|---|---|---|---|---|---|---|---|---|