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Search Results: 3 unique variants retrieved


Variant No. 27
p.(Gly51Arg) (Legacy AA No. 11)
Variant Type:
Point
Domain:
Gla
Sequence Context:
GGA > AGA
Variant Effect:
Missense
Location:
Exon 2
No of bases:
1
No. of cases reported:
1
Allele Frequency (MAF):
Pathogenicity(ACMG): 2=Likely Benign, 3=Uncertain, 4=Likely Pathogenic:

Individual Case Information : Show


Variant No. 28
p.(Gly51Arg) (Legacy AA No. 11)
Variant Type:
Point
Domain:
Gla
Sequence Context:
GGA > CGA
Variant Effect:
Missense
Location:
Exon 2
No of bases:
1
No. of cases reported:
1
Allele Frequency (MAF):
Pathogenicity(ACMG): 2=Likely Benign, 3=Uncertain, 4=Likely Pathogenic:

Individual Case Information : Show


Variant No. 29
p.(Gly51Val) (Legacy AA No. 11)
Variant Type:
Point
Domain:
Gla
Sequence Context:
GGA > GTA
Variant Effect:
Missense
Location:
Exon 2
No of bases:
1
No. of cases reported:
3
Allele Frequency (MAF):
Pathogenicity(ACMG): 2=Likely Benign, 3=Uncertain, 4=Likely Pathogenic:

Individual Case Information : Show