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  Search Results: 3 unique variants retrieved



  c.568G>T
p.(Gly190Cys) (Legacy AA No.171)
Variant Type:
Point
Domain:
A1
Sequence Context:
GGC > TGC
Variant Effect:
Missense
Location:
Exon 4
No of bases:
No. of cases reported:
2
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Individual Case Information : Show


  c.569G>A
p.(Gly190Asp) (Legacy AA No.171)
Variant Type:
Point
Domain:
A1
Sequence Context:
GGC > GAC
Variant Effect:
Missense
Location:
Exon 4
No of bases:
1
No. of cases reported:
4
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Individual Case Information : Show


  c.570_578del
p.(Gly190_Ile192del) (Legacy AA No.171)
Variant Type:
Deletion
Domain:
A1
Sequence Context:
Variant Effect:
Inframe
Location:
Exon 4
No of bases:
No. of cases reported:
2
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Structural Analysis cannot be performed for this type (Deletion | Inframe) of mutation at Exon 4

Individual Case Information : Show