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  Search Results: 5 unique variants retrieved



  c.763G>T
p.(Gly255Cys) (Legacy AA No.236)
Variant Type:
Point
Domain:
A1
Sequence Context:
Variant Effect:
Missense
Location:
Exon 6
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 6

Individual Case Information : Show


  c.763G>A
p.(Gly255Ser) (Legacy AA No.236)
Variant Type:
Point
Domain:
A1
Sequence Context:
GGT > AGT
Variant Effect:
Missense
Location:
Exon 6
No of bases:
1
No. of cases reported:
4
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Individual Case Information : Show


  c.764G>C
p.(Gly255Ala) (Legacy AA No.236)
Variant Type:
Point
Domain:
A1
Sequence Context:
GGT > GCT
Variant Effect:
Missense
Location:
Exon 6
No of bases:
1
No. of cases reported:
2
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Individual Case Information : Show


  c.764G>A
p.(Gly255Asp) (Legacy AA No.236)
Variant Type:
Point
Domain:
A1
Sequence Context:
GGT > GAT
Variant Effect:
Missense
Location:
Exon 6
No of bases:
1
No. of cases reported:
2
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Individual Case Information : Show


  c.764G>T
p.(Gly255Val) (Legacy AA No.236)
Variant Type:
Point
Domain:
A1
Sequence Context:
GGT > GTT
Variant Effect:
Missense
Location:
Exon 6
No of bases:
1
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