Search Results: 2 unique variants retrieved
c.6406G>A
p.(Gly2136Arg) (Legacy AA No.2117)
Variant Type:
Point
Domain:
C1
Sequence Context:
GGA > AGA
Variant Effect:
Missense
Location:
Exon 22
No of bases:
1
No. of cases reported:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Individual Case Information :
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c.6407G>A
p.(Gly2136Glu) (Legacy AA No.2117)
Variant Type:
Point
Domain:
C1
Sequence Context:
GGA > GAA
Variant Effect:
Missense
Location:
Exon 22
No of bases:
1
No. of cases reported:
2
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Individual Case Information :
Show