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  Search Results: 3 unique variants retrieved



 
(Legacy AA No.2174)
Variant Type:
Deletion
Domain:
C2
Sequence Context:
Variant Effect:
Large Deletion
Location:
Exon 24
No of bases:
1328bp
No. of cases reported:
1
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Structural Analysis cannot be performed for this type (Deletion | Large Deletion) of mutation at Exon 24

Individual Case Information : Show


  c.6577T>G
p.(Cys2193Gly) (Legacy AA No.2174)
Variant Type:
Point
Domain:
C2
Sequence Context:
TGC > GGC
Variant Effect:
Missense
Location:
Exon 23
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.6578G>A
p.(Cys2193Tyr) (Legacy AA No.2174)
Variant Type:
Point
Domain:
C2
Sequence Context:
TGC > TAC
Variant Effect:
Missense
Location:
Exon 24
No of bases:
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