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  Search Results: 2 unique variants retrieved



  c.6785T>C
p.(Val2262Ala) (Legacy AA No.2243)
Variant Type:
Point
Domain:
C2
Sequence Context:
Variant Effect:
Missense
Location:
Exon 25
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 25

Individual Case Information : Show


  c.6786_6787insCAA
p.(Val2262_Thr2263insGln) (Legacy AA No.2243)
Variant Type:
Insertion
Domain:
C2
Sequence Context:
Variant Effect:
Inframe
Location:
Exon 25
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 (Insertion | Inframe) of mutation at Exon 25

Individual Case Information : Show