Data Display Options:

UNIQUE (Without Case Data) :
MULTIPLE (With Case Data) :

  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

Please click to see if there is the available information.

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

Please click to see if there is the available information.

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

Please click to see if there is the available information.

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):

Molecular Graphics and Amino-acid Alignments

Please click to see if there is the available information.

Individual Case Information : Show