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  Search Results: 2 unique variants retrieved



  c.1244C>A
p.(Ala415Asp) (Legacy AA No.396)
Variant Type:
Point
Domain:
A2
Sequence Context:
GCT > GAT
Variant Effect:
Missense
Location:
Exon 8
No of bases:
No. of cases reported:
3
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Individual Case Information : Show


  c.1244C>T
p.(Ala415Val) (Legacy AA No.396)
Variant Type:
Point
Domain:
A2
Sequence Context:
GCT > GTT
Variant Effect:
Missense
Location:
Exon 8
No of bases:
1
No. of cases reported:
18
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Please click to see if there is the available information.

Individual Case Information : Show