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  Search Results: 2 unique variants retrieved



  c.5629T>C
p.(Cys1877Arg) (Legacy AA No.1858)
Variant Type:
Point
Domain:
A3
Sequence Context:
TGC > CGC
Variant Effect:
Missense
Location:
Exon 17
No of bases:
1
No. of cases reported:
3
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Individual Case Information : Show


  c.5630G>A
p.(Cys1877Tyr) (Legacy AA No.1858)
Variant Type:
Point
Domain:
A3
Sequence Context:
Variant Effect:
Missense
Location:
Exon 17
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 17

Individual Case Information : Show