Data Display Options:
Search Results: 5 unique variants retrieved
c.6055T>C
p.(Cys2019Arg) (Legacy AA No.2000)
Variant Type:
Point
Domain:
A3
Sequence Context:
TGC > CGC
Variant Effect:
Missense
Location:
Exon 19
No of bases:
No. of cases reported:
2
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Individual Case Information : Show
c.6055T>G
p.(Cys2019Gly) (Legacy AA No.2000)
Variant Type:
Point
Domain:
A3
Sequence Context:
TGC > GGC
Variant Effect:
Missense
Location:
Exon 19
No of bases:
No. of cases reported:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Individual Case Information : Show
c.6056G>A
p.(Cys2019Tyr) (Legacy AA No.2000)
Variant Type:
Point
Domain:
A3
Sequence Context:
TGC > TAC
Variant Effect:
Missense
Location:
Exon 19
No of bases:
No. of cases reported:
2
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Individual Case Information : Show
c.6057C>A
p.(Cys2019*) (Legacy AA No.2000)
Variant Type:
Point
Domain:
A3
Sequence Context:
TGC > TGA
Variant Effect:
Nonsense
Location:
Exon 19
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 19
Individual Case Information : Show
c.6057C>G
p.(Cys2019Trp) (Legacy AA No.2000)
Variant Type:
Point
Domain:
A3
Sequence Context:
TGC > TGG
Variant Effect:
Missense
Location:
Exon 19
No of bases:
No. of cases reported:
1
Allele Frequency (MAF):