Search Results: 3 unique variants retrieved
c.5878C>T
p.(Arg1960*) (Legacy AA No.1941)
Variant Type:
Point
Domain:
A3
Sequence Context:
CGA > TGA
Variant Effect:
Nonsense
Location:
Exon 18
No of bases:
1
No. of cases reported:
32
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Structural Analysis cannot be performed for this type (Point | Nonsense) of mutation at Exon 18
Individual Case Information :
Show
(presumed 1-st) |
(2-st/Chr) |
(1-st/2-st) |
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c.5879G>A
p.(Arg1960Gln) (Legacy AA No.1941)
Variant Type:
Point
Domain:
A3
Sequence Context:
CGA > CAA
Variant Effect:
Missense
Location:
Exon 18
No of bases:
1
No. of cases reported:
39
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.5879G>T
p.(Arg1960Leu) (Legacy AA No.1941)
Variant Type:
Point
Domain:
A3
Sequence Context:
CGA > CTA
Variant Effect:
Missense
Location:
Exon 18
No of bases:
1
No. of cases reported:
1
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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