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  Search Results: 2 unique variants retrieved



  c.1588T>C
p.(Tyr530His) (Legacy AA No.511)
Variant Type:
Point
Domain:
A2
Sequence Context:
TAT > CAT
Variant Effect:
Missense
Location:
Exon 11
No of bases:
No. of cases reported:
8
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Individual Case Information : Show


  c.1589A>G
p.(Tyr530Cys) (Legacy AA No.511)
Variant Type:
Point
Domain:
A2
Sequence Context:
TAT > TGT
Variant Effect:
Missense
Location:
Exon 11
No of bases:
1
No. of cases reported:
11
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Please click to see if there is the available information.

Individual Case Information : Show