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  Search Results: 7 unique variants retrieved



  c.200dupA
p.(Thr68Aspfs*16) (Legacy AA No.49)
Variant Type:
Duplication
Domain:
A1
Sequence Context:
Variant Effect:
Frameshift
Location:
Exon 2
No of bases:
1
No. of cases reported:
4
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Structural Analysis cannot be performed for this type (Duplication | Frameshift) of mutation at Exon 2

Individual Case Information : Show


  c.202A>G
p.(Thr68Ala) (Legacy AA No.49)
Variant Type:
Point
Domain:
A1
Sequence Context:
ACT > GCT
Variant Effect:
Missense
Location:
Exon 2
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.202_203insGA
p.(Thr68Argfs*5) (Legacy AA No.49)
Variant Type:
Insertion
Domain:
A1
Sequence Context:
Variant Effect:
Frameshift
Location:
Exon 2
No of bases:
2
No. of cases reported:
1
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Structural Analysis cannot be performed for this type (Insertion | Frameshift) of mutation at Exon 2

Individual Case Information : Show


  c.202A>C
p.(Thr68Pro) (Legacy AA No.49)
Variant Type:
Point
Domain:
A1
Sequence Context:
ACT > CCT
Variant Effect:
Missense
Location:
Exon 2
No of bases:
1
No. of cases reported:
2
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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  c.202_207delACTCTG
p.(Thr68_Leu69del) (Legacy AA No.49)
Variant Type:
Deletion
Domain:
A1
Sequence Context:
Variant Effect:
Inframe
Location:
Exon 2
No of bases:
6
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 Exon 2

Individual Case Information : Show


  c.203C>A
p.(Thr68Asn) (Legacy AA No.49)
Variant Type:
Point
Domain:
A1
Sequence Context:
ACT > AAT
Variant Effect:
Missense
Location:
Exon 2
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.203C>T
p.(Thr68Ile) (Legacy AA No.49)
Variant Type:
Point
Domain:
A1
Sequence Context:
ACT > ATT
Variant Effect:
Missense
Location:
Exon 2
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