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  Search Results: 6 unique variants retrieved



  c.6516_6517delAA
p.(Thr2173Serfs*3) (Legacy AA No.2154)
Variant Type:
Deletion
Domain:
C1
Sequence Context:
Variant Effect:
Frameshift
Location:
Exon 23
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 23

Individual Case Information : Show


  c.6517A>G
p.(Thr2173Ala) (Legacy AA No.2154)
Variant Type:
Point
Domain:
C1
Sequence Context:
ACT > GCT
Variant Effect:
Missense
Location:
Exon 23
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.6517_6519dupACT
p.(Thr2173dup) (Legacy AA No.2154)
Variant Type:
Duplication
Domain:
C1
Sequence Context:
Variant Effect:
Inframe
Location:
Exon 23
No of bases:
3
No. of cases reported:
1
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Structural Analysis cannot be performed for this type (Duplication | Inframe) of mutation at Exon 23

Individual Case Information : Show


  c.6518C>A
p.(Thr2173Asn) (Legacy AA No.2154)
Variant Type:
Point
Domain:
C1
Sequence Context:
ACT > AAT
Variant Effect:
Missense
Location:
Exon 23
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.6518C>T
p.(Thr2173Ile) (Legacy AA No.2154)
Variant Type:
Point
Domain:
C1
Sequence Context:
ACT > ATT
Variant Effect:
Missense
Location:
Exon 23
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.6574+12A>G
(Legacy AA No.2192)
Variant Type:
Point
Domain:
C2
Sequence Context:
Variant Effect:
Splice
Location:
Intron 23
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 23

Individual Case Information : Show