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  Search Results: 3 unique variants retrieved



  c.6202_6257dup56
p.(Ser2088fs*?) (Legacy AA No.2069)
Variant Type:
Duplication
Domain:
C1
Sequence Context:
Variant Effect:
Frameshift
Location:
Exon 21
No of bases:
56
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 21

Individual Case Information : Show


  c.6263C>T
p.(Ser2088Phe) (Legacy AA No.2069)
Variant Type:
Point
Domain:
C1
Sequence Context:
TCT > TTT
Variant Effect:
Missense
Location:
Exon 21
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.6263C>A
p.(Ser2088Tyr) (Legacy AA No.2069)
Variant Type:
Point
Domain:
C1
Sequence Context:
TCT > TAT
Variant Effect:
Missense
Location:
Exon 21
No of bases:
No. of cases reported:
1
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Please click to see if there is the available information.

Individual Case Information : Show