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  Search Results: 3 unique variants retrieved



  c.70T>G
p.(Tyr24Asp) (Legacy AA No.5)
Variant Type:
Point
Domain:
A1
Sequence Context:
TAC > GAC
Variant Effect:
Missense
Location:
Exon 1
No of bases:
No. of cases reported:
1
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Individual Case Information : Show


  c.71A>G
p.(Tyr24Cys) (Legacy AA No.5)
Variant Type:
Point
Domain:
A1
Sequence Context:
TAC > TGC
Variant Effect:
Missense
Location:
Exon 1
No of bases:
1
No. of cases reported:
17
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Individual Case Information : Show


  c.72C>G
p.(Tyr24*) (Legacy AA No.5)
Variant Type:
Point
Domain:
A1
Sequence Context:
TAC > TAG
Variant Effect:
Nonsense
Location:
Exon 1
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 | Nonsense) of mutation at Exon 1

Individual Case Information : Show