Search Results: 2 unique variants retrieved
c.658G>C
p.(Val220Leu) (Legacy AA No.201)
Variant Type:
Point
Domain:
A1
Sequence Context:
GTA > CTA
Variant Effect:
Missense
Location:
Exon 5
No of bases:
No. of cases reported:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Individual Case Information :
Show
c.659T>G
p.(Val220Gly) (Legacy AA No.201)
Variant Type:
Point
Domain:
A1
Sequence Context:
GTA > GGA
Variant Effect:
Missense
Location:
Exon 5
No of bases:
1
No. of cases reported:
5
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Individual Case Information :
Show