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  Search Results: 1 unique variant retrieved.



  c.5522A>T
p.(His1841Leu) (Legacy AA No.1822)
Variant Type:
Point
Domain:
A3
Sequence Context:
Variant Effect:
Missense
Location:
Exon 16
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 16

Individual Case Information : Show