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  Search Results: 4 unique variants retrieved



  c.1324T>A
p.(Tyr442Asn) (Legacy AA No.423)
Variant Type:
Point
Domain:
A2
Sequence Context:
TAC > AAC
Variant Effect:
Missense
Location:
Exon 9
No of bases:
1
No. of cases reported:
1
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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  c.1324T>C
p.(Tyr442His) (Legacy AA No.423)
Variant Type:
Point
Domain:
A2
Sequence Context:
TAC > CAC
Variant Effect:
Missense
Location:
Exon 9
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.1325A>G
p.(Tyr442Cys) (Legacy AA No.423)
Variant Type:
Point
Domain:
A2
Sequence Context:
TAC > TGC
Variant Effect:
Missense
Location:
Exon 9
No of bases:
1
No. of cases reported:
2
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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  c.1326delC
p.(Tyr442fs*) (Legacy AA No.423)
Variant Type:
Deletion
Domain:
A2
Sequence Context:
Variant Effect:
Frameshift
Location:
Exon 9
No of bases:
1
No. of cases reported:
2
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Structural Analysis cannot be performed for this type (Deletion | Frameshift) of mutation at Exon 9

Individual Case Information : Show