Data Display Options:

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

  Search Results: 4 unique variants retrieved



  c.6868T>C
p.(Trp2290Arg) (Legacy AA No.2271)
Variant Type:
Point
Domain:
C2
Sequence Context:
TGG > CGG
Variant Effect:
Missense
Location:
Exon 25
No of bases:
No. of cases reported:
3
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Please click to see if there is the available information.

Individual Case Information : Show


  c.6869G>T
p.(Trp2290Leu) (Legacy AA No.2271)
Variant Type:
Point
Domain:
C2
Sequence Context:
TGG > TTG
Variant Effect:
Missense
Location:
Exon 25
No of bases:
1
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.6870G>A
p.(Trp2290*) (Legacy AA No.2271)
Variant Type:
Point
Domain:
C2
Sequence Context:
TGG > TGA
Variant Effect:
Nonsense
Location:
Exon 25
No of bases:
1
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 25

Individual Case Information : Show


  c.6870G>T
p.(Trp2290Cys) (Legacy AA No.2271)
Variant Type:
Point
Domain:
C2
Sequence Context:
TGG > TGT
Variant Effect:
Missense
Location:
Exon 25
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