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  Search Results: 2 unique variants retrieved



  c.6151A>T
p.(Ile2051Phe) (Legacy AA No.2032)
Variant Type:
Point
Domain:
A3
Sequence Context:
Variant Effect:
Missense
Location:
Exon 19
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 19

Individual Case Information : Show


  c.6152T>G
p.(Ile2051Ser) (Legacy AA No.2032)
Variant Type:
Point
Domain:
C1
Sequence Context:
ATT > AGT
Variant Effect:
Missense
Location:
Exon 20
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