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  Search Results: 4 unique variants retrieved



  c.5380_5381delTT
p.(Phe1794Glnfs*13) (Legacy AA No.1775)
Variant Type:
Deletion
Domain:
A3
Sequence Context:
Variant Effect:
Frameshift
Location:
Exon 16
No of bases:
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 16

Individual Case Information : Show


  c.5380T>C
p.(Phe1794Leu) (Legacy AA No.1775)
Variant Type:
Point
Domain:
A3
Sequence Context:
TTC > CTC
Variant Effect:
Missense
Location:
Exon 16
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.5381T>C
p.(Phe1794Pro) (Legacy AA No.1775)
Variant Type:
Point
Domain:
A3
Sequence Context:
TTC > TCC
Variant Effect:
Missense
Location:
Exon 16
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.5381T>A
p.(Phe1794Tyr) (Legacy AA No.1775)
Variant Type:
Point
Domain:
A3
Sequence Context:
TTC > TAC
Variant Effect:
Missense
Location:
Exon 16
No of bases:
No. of cases reported:
7
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Please click to see if there is the available information.

Individual Case Information : Show