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  Search Results: 4 unique variants retrieved



  c.1966T>C
p.(Trp656Arg) (Legacy AA No.637)
Variant Type:
Point
Domain:
A2
Sequence Context:
TGG > CGG
Variant Effect:
Missense
Location:
Exon 13
No of bases:
1
No. of cases reported:
3
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Individual Case Information : Show


  c.1966T>G
p.(Trp656Gly) (Legacy AA No.637)
Variant Type:
Point
Domain:
A2
Sequence Context:
Variant Effect:
Missense
Location:
Exon 13
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 | Missense ) of mutation at Exon 13

Individual Case Information : Show


  c.1967G>A
p.(Trp656*) (Legacy AA No.637)
Variant Type:
Point
Domain:
A2
Sequence Context:
TGG > TAG
Variant Effect:
Nonsense
Location:
Exon 13
No of bases:
1
No. of cases reported:
4
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Structural Analysis cannot be performed for this type (Point | Nonsense) of mutation at Exon 13

Individual Case Information : Show


  c.1968G>A
p.(Trp656*) (Legacy AA No.637)
Variant Type:
Point
Domain:
A2
Sequence Context:
TGG > TGA
Variant Effect:
Nonsense
Location:
Exon 13
No of bases:
No. of cases reported:
4
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Structural Analysis cannot be performed for this type (Point | Nonsense) of mutation at Exon 13

Individual Case Information : Show