Search Results: 3 unique variants retrieved
c.1093T>C
p.(Tyr365His) (Legacy AA No.346)
Variant Type:
Point
Domain:
a1
Sequence Context:
TAT > CAT
Variant Effect:
Missense
Location:
Exon 8
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) |
||||||||
---|---|---|---|---|---|---|---|---|---|---|
c.1094A>G
p.(Tyr365Cys) (Legacy AA No.346)
Variant Type:
Point
Domain:
a1
Sequence Context:
TAT > TGT
Variant Effect:
Missense
Location:
Exon 8
No of bases:
1
No. of cases reported:
97
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Individual Case Information :
Show
(presumed 1-st) |
(2-st/Chr) |
(1-st/2-st) |
||||||||
---|---|---|---|---|---|---|---|---|---|---|
c.1095T>G
p.(Tyr365*) (Legacy AA No.346)
Variant Type:
Point
Domain:
a1
Sequence Context:
TAT > TAG
Variant Effect:
Nonsense
Location:
Exon 8
No of bases:
No. of cases reported:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Structural Analysis cannot be performed for this type (Point | Nonsense) of mutation at Exon 8
Individual Case Information :
Show
(presumed 1-st) |
(2-st/Chr) |
(1-st/2-st) |
||||||||
---|---|---|---|---|---|---|---|---|---|---|