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  Search Results: 3 unique variants retrieved



  c.829A>T
p.(Ile277Phe) (Legacy AA No.258)
Variant Type:
Point
Domain:
A1
Sequence Context:
ATT > TTT
Variant Effect:
Missense
Location:
Exon 7
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.829A>G
p.(Ile277Val) (Legacy AA No.258)
Variant Type:
Point
Domain:
A1
Sequence Context:
ATT > GTT
Variant Effect:
Missense
Location:
Exon 7
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.830T>G
p.(Ile277Ser ) (Legacy AA No.258)
Variant Type:
Point
Domain:
A1
Sequence Context:
Variant Effect:
Missense
Location:
Exon 7
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 7

Individual Case Information : Show