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  Search Results: 2 unique variants retrieved



  c.6956dupC
p.(Leu2320Valfs*65) (Legacy AA No.2301)
Variant Type:
Duplication
Domain:
C2
Sequence Context:
Variant Effect:
Frameshift
Location:
Exon 26
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 (Duplication | Frameshift) of mutation at Exon 26

Individual Case Information : Show


  c.6959T>C
p.(Leu2320Ser) (Legacy AA No.2301)
Variant Type:
Point
Domain:
C2
Sequence Context:
TTA > TCA
Variant Effect:
Missense
Location:
Exon 26
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