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  Search Results: 3 unique variants retrieved



  c.6652dupA
p.(Met2218Asnfs*18) (Legacy AA No.2199)
Variant Type:
Duplication
Domain:
C2
Sequence Context:
Variant Effect:
Frameshift
Location:
Exon 24
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 (Duplication | Frameshift) of mutation at Exon 24

Individual Case Information : Show


  c.6652A>G
p.(Met2218Val) (Legacy AA No.2199)
Variant Type:
Point
Domain:
C2
Sequence Context:
Variant Effect:
Missense
Location:
Exon 24
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 | Missense ) of mutation at Exon 24

Individual Case Information : Show


  c.6652_6653delAT
p.(Met2218Valfs*18) (Legacy AA No.2199)
Variant Type:
Deletion
Domain:
C2
Sequence Context:
Variant Effect:
Frameshift
Location:
Exon 24
No of bases:
2
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 24

Individual Case Information : Show