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  Search Results: 5 unique variants retrieved



  c.1813T>C
p.(Tyr605His) (Legacy AA No.586)
Variant Type:
Point
Domain:
A2
Sequence Context:
TAC > CAC
Variant Effect:
Missense
Location:
Exon 12
No of bases:
1
No. of cases reported:
3
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Individual Case Information : Show


  c.1814A>G
p.(Tyr605Cys) (Legacy AA No.586)
Variant Type:
Point
Domain:
A2
Sequence Context:
TAC > TGC
Variant Effect:
Missense
Location:
Exon 12
No of bases:
1
No. of cases reported:
6
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Individual Case Information : Show


  c.1814A>C
p.(Tyr605Ser) (Legacy AA No.586)
Variant Type:
Point
Domain:
A2
Sequence Context:
TAC > TCC
Variant Effect:
Missense
Location:
Exon 12
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.1815C>A
p.(Tyr605*) (Legacy AA No.586)
Variant Type:
Point
Domain:
A2
Sequence Context:
TAC > TAA
Variant Effect:
Nonsense
Location:
Exon 12
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 | Nonsense) of mutation at Exon 12

Individual Case Information : Show


  c.1815C>G
p.(Tyr605*) (Legacy AA No.586)
Variant Type:
Point
Domain:
A2
Sequence Context:
TAC > TAG
Variant Effect:
Nonsense
Location:
Exon 12
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 | Nonsense) of mutation at Exon 12

Individual Case Information : Show