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  Search Results: 5 unique variants retrieved



  c.6118T>G
p.(Cys2040Gly) (Legacy AA No.2021)
Variant Type:
Point
Domain:
C1
Sequence Context:
TGT > GGT
Variant Effect:
Missense
Location:
Exon 20
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.6119delG
p.(Cys2040Phefs*59) (Legacy AA No.2021)
Variant Type:
Deletion
Domain:
C1
Sequence Context:
Variant Effect:
Frameshift
Location:
Exon 20
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 20

Individual Case Information : Show


  c.6119G>A
p.(Cys2040Tyr) (Legacy AA No.2021)
Variant Type:
Point
Domain:
C1
Sequence Context:
TGT > TAT
Variant Effect:
Missense
Location:
Exon 20
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.6120T>A
p.(Cys2040*) (Legacy AA No.2021)
Variant Type:
Point
Domain:
C1
Sequence Context:
TGT > TGA
Variant Effect:
Nonsense
Location:
Exon 20
No of bases:
1
No. of cases reported:
1
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Structural Analysis cannot be performed for this type (Point | Nonsense) of mutation at Exon 20

Individual Case Information : Show


  c.6120_6135delTCAGACTCCCCTGGGA
p.(Cys2040*) (Legacy AA No.2021)
Variant Type:
Deletion
Domain:
C1
Sequence Context:
Variant Effect:
Frameshift
Location:
Exon 20
No of bases:
16
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 20

Individual Case Information : Show