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  Search Results: 2 unique variants retrieved



  c.1090G>A
p.(Asp364Asn) (Legacy AA No.345)
Variant Type:
Point
Domain:
a1
Sequence Context:
GAC > AAC
Variant Effect:
Missense
Location:
Exon 8
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.1090delG
p.(Asp364Thrfs*54) (Legacy AA No.345)
Variant Type:
Deletion
Domain:
A1
Sequence Context:
Variant Effect:
Frameshift
Location:
Exon 8
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 (Deletion | Frameshift) of mutation at Exon 8

Individual Case Information : Show