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  Search Results: 6 unique variants retrieved



  c.787+6T>C
(Legacy AA No.244)
Variant Type:
Point
Domain:
A1
Sequence Context:
Variant Effect:
Splice
Location:
Intron 6
No of bases:
No. of cases reported:
3
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Structural Analysis cannot be performed for this type (Point | Splice) of mutation at Intron 6

Individual Case Information : Show


  c.787G>C
p.(Gly263Arg) (Legacy AA No.244)
Variant Type:
Point
Domain:
A1
Sequence Context:
GGT > CGT
Variant Effect:
Missense
Location:
Exon 6
No of bases:
1
No. of cases reported:
1
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Individual Case Information : Show


  c.787G>T
p.(Gly263Cys) (Legacy AA No.244)
Variant Type:
Point
Domain:
A1
Sequence Context:
GGT > TGT
Variant Effect:
Missense
Location:
Exon 6
No of bases:
No. of cases reported:
1
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Individual Case Information : Show


  c.787G>A
p.(Gly263Ser) (Legacy AA No.244)
Variant Type:
Point
Domain:
A1
Sequence Context:
GGT > AGT
Variant Effect:
Missense
Location:
Exon 6
No of bases:
1
No. of cases reported:
1
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Individual Case Information : Show


  c.788G>A
p.(Gly263Asp) (Legacy AA No.244)
Variant Type:
Point
Domain:
A1
Sequence Context:
GGT > GAT
Variant Effect:
Missense
Location:
Exon 7
No of bases:
1
No. of cases reported:
1
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Individual Case Information : Show


  c.788delG
p.(Gly263Valfs*2) (Legacy AA No.244)
Variant Type:
Deletion
Domain:
A1
Sequence Context:
Variant Effect:
Frameshift
Location:
Exon 7
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 (Deletion | Frameshift) of mutation at Exon 7

Individual Case Information : Show