Search Results: 2 unique variants retrieved
c.1474T>C
p.(Tyr492His) (Legacy AA No.473)
Variant Type:
Point
Domain:
A2
Sequence Context:
TAT > CAT
Variant Effect:
Missense
Location:
Exon 10
No of bases:
1
No. of cases reported:
26
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.1475A>G
p.(Tyr492Cys) (Legacy AA No.473)
Variant Type:
Point
Domain:
A2
Sequence Context:
TAT > TGT
Variant Effect:
Missense
Location:
Exon 10
No of bases:
1
No. of cases reported:
15
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Individual Case Information :
Show
(presumed 1-st) |
(2-st/Chr) |
(1-st/2-st) |
||||||||
---|---|---|---|---|---|---|---|---|---|---|