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  Search Results: 2 unique variants retrieved



  c.670G>T
p.(Gly224Trp) (Legacy AA No.205)
Variant Type:
Point
Domain:
A1
Sequence Context:
GGG > TGG
Variant Effect:
Missense
Location:
Exon 5
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.671-11T>C
(Legacy AA No.205)
Variant Type:
Point
Domain:
A1
Sequence Context:
Variant Effect:
Splice
Location:
Intron 5
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 | Splice) of mutation at Intron 5

Individual Case Information : Show