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  Search Results: 4 unique variants retrieved



  c.775A>G
p.(Arg259Gly ) (Legacy AA No.240)
Variant Type:
Point
Domain:
A1
Sequence Context:
Variant Effect:
Missense
Location:
Exon 6
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 6

Individual Case Information : Show


  c.775A>T
p.(Arg259Trp) (Legacy AA No.240)
Variant Type:
Point
Domain:
A1
Sequence Context:
AGG > TGG
Variant Effect:
Missense
Location:
Exon 6
No of bases:
1
No. of cases reported:
1
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Individual Case Information : Show


  c.776G>C
p.(Arg259Thr) (Legacy AA No.240)
Variant Type:
Point
Domain:
A1
Sequence Context:
AGG > ACG
Variant Effect:
Missense
Location:
Exon 6
No of bases:
1
No. of cases reported:
1
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Individual Case Information : Show


  c.777G>T
p.(Arg259Ser) (Legacy AA No.240)
Variant Type:
Point
Domain:
A1
Sequence Context:
AGG > AGT
Variant Effect:
Missense
Location:
Exon 6
No of bases:
No. of cases reported:
3
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Please click to see if there is the available information.

Individual Case Information : Show