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  Search Results: 12 unique variants retrieved



  c.5998G>C
p.(Gly2000Arg) (Legacy AA No.1981)
Variant Type:
Point
Domain:
A3
Sequence Context:
GGT > CGT
Variant Effect:
Missense
Location:
Exon 18
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.5998G>A
p.(Gly2000Ser) (Legacy AA No.1981)
Variant Type:
Point
Domain:
A3
Sequence Context:
Variant Effect:
Missense
Location:
Exon 18
No of bases:
No. of cases reported:
2
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Structural Analysis cannot be performed for this type (Point | Missense ) of mutation at Exon 18

Individual Case Information : Show


  c.5999-277G>A
(Legacy AA No.1981)
Variant Type:
Point
Domain:
A3
Sequence Context:
Variant Effect:
Splice
Location:
Intron 18
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 18

Individual Case Information : Show


  c.5999-18_6003del23
(Legacy AA No.1981)
Variant Type:
Deletion
Domain:
A3
Sequence Context:
Variant Effect:
Splice
Location:
Intron 18
No of bases:
23
No. of cases reported:
1
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Structural Analysis cannot be performed for this type (Deletion | Splice) of mutation at Intron 18

Individual Case Information : Show


  c.5999-2_5999_1delAG
(Legacy AA No.1981)
Variant Type:
Deletion
Domain:
A3
Sequence Context:
Variant Effect:
Splice
Location:
Intron 18
No of bases:
2
No. of cases reported:
2
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Structural Analysis cannot be performed for this type (Deletion | Splice) of mutation at Intron 18

Individual Case Information : Show


  c.5999-1G>T
(Legacy AA No.1981)
Variant Type:
Point
Domain:
A3
Sequence Context:
Variant Effect:
Splice
Location:
Intron 18
No of bases:
No. of cases reported:
2
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Structural Analysis cannot be performed for this type (Point | Splice) of mutation at Intron 18

Individual Case Information : Show


  c.5999-2A>C
(Legacy AA No.1981)
Variant Type:
Point
Domain:
A3
Sequence Context:
Variant Effect:
Splice
Location:
Intron 18
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 | Splice) of mutation at Intron 18

Individual Case Information : Show


  c.5999-22_23delCT
(Legacy AA No.1981)
Variant Type:
Deletion
Domain:
A3
Sequence Context:
Variant Effect:
Splice
Location:
Intron 18
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 | Splice) of mutation at Intron 18

Individual Case Information : Show


  c.5999-8_6006del16
(Legacy AA No.1981)
Variant Type:
Deletion
Domain:
A3
Sequence Context:
Variant Effect:
Inframe
Location:
Intron 19
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 | Inframe) of mutation at Intron 19

Individual Case Information : Show


  c.5999G>A
p.(Gly2000Asp) (Legacy AA No.1981)
Variant Type:
Point
Domain:
A3
Sequence Context:
GGT > GAT
Variant Effect:
Missense
Location:
Exon 19
No of bases:
No. of cases reported:
2
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Individual Case Information : Show


  c.5999G>T
p.(Gly2000Val) (Legacy AA No.1981)
Variant Type:
Point
Domain:
A3
Sequence Context:
GGT > GTT
Variant Effect:
Missense
Location:
Exon 19
No of bases:
No. of cases reported:
2
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Individual Case Information : Show


  c.5999G>C
p.(Gly2000Ala) (Legacy AA No.1981)
Variant Type:
Point
Domain:
A3
Sequence Context:
GGT > GCT
Variant Effect:
Missense
Location:
Exon 19
No of bases:
1
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