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  Search Results: 2 unique variants retrieved



  c.5315A>T
p.(Asn1772Ile) (Legacy AA No.1753)
Variant Type:
Point
Domain:
A3
Sequence Context:
AAT > ATT
Variant Effect:
Missense
Location:
Exon 15
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.5316T>A
p.(Asn1772Lys) (Legacy AA No.1753)
Variant Type:
Point
Domain:
A3
Sequence Context:
AAT > AAA
Variant Effect:
Missense
Location:
Exon 15
No of bases:
1
No. of cases reported:
1
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Please click to see if there is the available information.

Individual Case Information : Show