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  Search Results: 3 unique variants retrieved



  c.6412_6413delTC
p.(Ser2138Hisfs*22) (Legacy AA No.2119)
Variant Type:
Deletion
Domain:
C1
Sequence Context:
Variant Effect:
Frameshift
Location:
Exon 23
No of bases:
2
No. of cases reported:
1
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Structural Analysis cannot be performed for this type (Deletion | Frameshift) of mutation at Exon 23

Individual Case Information : Show


  c.6413C>T
p.(Ser2138Phe) (Legacy AA No.2119)
Variant Type:
Point
Domain:
C1
Sequence Context:
TCC > TTC
Variant Effect:
Missense
Location:
Exon 22
No of bases:
1
No. of cases reported:
1
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Individual Case Information : Show


  c.6413C>A
p.(Ser2138Tyr) (Legacy AA No.2119)
Variant Type:
Point
Domain:
C1
Sequence Context:
TCC > TAC
Variant Effect:
Missense
Location:
Exon 22
No of bases:
1
No. of cases reported:
3
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Please click to see if there is the available information.

Individual Case Information : Show