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  Search Results: 3 unique variants retrieved



  c.5701A>T
p.(Ile1901Phe) (Legacy AA No.1882)
Variant Type:
Point
Domain:
A3
Sequence Context:
ATC > TTC
Variant Effect:
Missense
Location:
Exon 17
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.5703C>A
p.(Ile1901Ile) (Legacy AA No.1882)
Variant Type:
Point
Domain:
A3
Sequence Context:
ATC > ATA
Variant Effect:
Silent
Location:
Exon 17
No of bases:
1
No. of cases reported:
1
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Structural Analysis cannot be performed for this type (Point | Silent) of mutation at Exon 17

Individual Case Information : Show


  c.5703C>A
p.(Ile1901Ile) (Legacy AA No.1882)
Variant Type:
Polymorphism
Domain:
A3
Sequence Context:
ATC > ATA
Variant Effect:
Synonymous
Location:
Exon 17
No of bases:
1
No. of cases reported:
1
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Structural Analysis cannot be performed for this type (Polymorphism | Synonymous) of mutation at Exon 17

Individual Case Information : Show