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  Search Results: 3 unique variants retrieved



  c.5993A>G
p.(Tyr1998Cys) (Legacy AA No.1979)
Variant Type:
Point
Domain:
A3
Sequence Context:
TAT > TGT
Variant Effect:
Missense
Location:
Exon 18
No of bases:
1
No. of cases reported:
13
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Individual Case Information : Show


  c.5993A>C
p.(Tyr1998Ser) (Legacy AA No.1979)
Variant Type:
Point
Domain:
A3
Sequence Context:
TAT > TCT
Variant Effect:
Missense
Location:
Exon 18
No of bases:
1
No. of cases reported:
2
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Individual Case Information : Show


  c.5994T>A
p.(Tyr1998*) (Legacy AA No.1979)
Variant Type:
Point
Domain:
A3
Sequence Context:
TAT > TAA
Variant Effect:
Nonsense
Location:
Exon 18
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 18

Individual Case Information : Show