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  Search Results: 3 unique variants retrieved



  c.881C>G
p.(Thr294Arg) (Legacy AA No.275)
Variant Type:
Point
Domain:
A1
Sequence Context:
ACA > AGA
Variant Effect:
Missense
Location:
Exon 7
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


  c.881C>T
p.(Thr294Ile) (Legacy AA No.275)
Variant Type:
Point
Domain:
A1
Sequence Context:
ACA > ATA
Variant Effect:
Missense
Location:
Exon 7
No of bases:
1
No. of cases reported:
5
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Individual Case Information : Show


  c.881_882delCA
p.(Thr294Ilefs*43) (Legacy AA No.275)
Variant Type:
Deletion
Domain:
A1
Sequence Context:
Variant Effect:
Frameshift
Location:
Exon 7
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 (Deletion | Frameshift) of mutation at Exon 7

Individual Case Information : Show