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  Search Results: 3 unique variants retrieved



  c.73T>C
p.(Tyr25Gln ) (Legacy AA No.6)
Variant Type:
Point
Domain:
A1
Sequence Context:
Variant Effect:
Missense
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 | Missense ) of mutation at Exon 1

Individual Case Information : Show


  c.73delT
p.(Tyr25Thrfs*14) (Legacy AA No.6)
Variant Type:
Deletion
Domain:
A1
Sequence Context:
Variant Effect:
Frameshift
Location:
Exon 1
No of bases:
1
No. of cases reported:
1
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Structural Analysis cannot be performed for this type (Deletion | Frameshift) of mutation at Exon 1

Individual Case Information : Show


  c.74A>G
p.(Tyr25Cys) (Legacy AA No.6)
Variant Type:
Point
Domain:
A1
Sequence Context:
TAC > TGC
Variant Effect:
Missense
Location:
Exon 1
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