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  Search Results: 2 unique variants retrieved



  c.6214C>T
p.(Leu2072Phe) (Legacy AA No.2053)
Variant Type:
Point
Domain:
C1
Sequence Context:
CTT > TTT
Variant Effect:
Missense
Location:
Exon 21
No of bases:
No. of cases reported:
2
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Individual Case Information : Show


  c.6215T>G
p.(Leu2072Arg) (Legacy AA No.2053)
Variant Type:
Point
Domain:
C1
Sequence Context:
CTT > CGT
Variant Effect:
Missense
Location:
Exon 21
No of bases:
No. of cases reported:
5
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Please click to see if there is the available information.

Individual Case Information : Show