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  Search Results: 5 unique variants retrieved



  c.1315G>T
p.(Gly439Cys) (Legacy AA No.420)
Variant Type:
Point
Domain:
A2
Sequence Context:
Variant Effect:
Missense
Location:
Exon 9
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 9

Individual Case Information : Show


  c.1315G>A
p.(Gly439Ser) (Legacy AA No.420)
Variant Type:
Point
Domain:
A2
Sequence Context:
GGT > AGT
Variant Effect:
Missense
Location:
Exon 9
No of bases:
1
No. of cases reported:
7
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Individual Case Information : Show


  c.1316G>C
p.(Gly439Ala) (Legacy AA No.420)
Variant Type:
Point
Domain:
A2
Sequence Context:
Variant Effect:
Missense
Location:
Exon 9
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 9

Individual Case Information : Show


  c.1316G>A
p.(Gly439Asp) (Legacy AA No.420)
Variant Type:
Point
Domain:
A2
Sequence Context:
GGT > GAT
Variant Effect:
Missense
Location:
Exon 9
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.1316G>T
p.(Gly439Val) (Legacy AA No.420)
Variant Type:
Point
Domain:
A2
Sequence Context:
GGT > GTT
Variant Effect:
Missense
Location:
Exon 9
No of bases:
1
No. of cases reported:
28
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Please click to see if there is the available information.

Individual Case Information : Show