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  Search Results: 3 unique variants retrieved



  c.[604dupA;624dupA]
p.(Ser202Asnfs*34) (Legacy AA No.183)
Variant Type:
Duplication
Domain:
A1
Sequence Context:
Variant Effect:
Frameshift
Location:
Exon 5
No of bases:
2
No. of cases reported:
1
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Structural Analysis cannot be performed for this type (Duplication | Frameshift) of mutation at Exon 5

Individual Case Information : Show


  c.605G>A
p.(Ser202Asn) (Legacy AA No.183)
Variant Type:
Point
Domain:
A1
Sequence Context:
AGT > AAT
Variant Effect:
Missense
Location:
Exon 5
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.606T>G
p.(Ser202Arg) (Legacy AA No.183)
Variant Type:
Point
Domain:
A1
Sequence Context:
AGT > AGG
Variant Effect:
Missense
Location:
Exon 5
No of bases:
1
No. of cases reported:
2
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Please click to see if there is the available information.

Individual Case Information : Show