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  Search Results: 4 unique variants retrieved



  c.665_670+5del11
(Legacy AA No.203)
Variant Type:
Deletion
Domain:
A1
Sequence Context:
Variant Effect:
Splice
Location:
Exon 5
No of bases:
11
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 Exon 5

Individual Case Information : Show


  c.665A>C
p.(Asp222Ala) (Legacy AA No.203)
Variant Type:
Point
Domain:
A1
Sequence Context:
GAT > GCT
Variant Effect:
Missense
Location:
Exon 5
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.665A>G
p.(Asp222Gly) (Legacy AA No.203)
Variant Type:
Point
Domain:
A1
Sequence Context:
GAT > GGT
Variant Effect:
Missense
Location:
Exon 5
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.665A>T
p.(Asp222Val) (Legacy AA No.203)
Variant Type:
Point
Domain:
A1
Sequence Context:
GAT > GTT
Variant Effect:
Missense
Location:
Exon 5
No of bases:
1
No. of cases reported:
4
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Please click to see if there is the available information.

Individual Case Information : Show