Search Results: 2 unique variants retrieved
c.584T>G
p.(Leu195Arg) (Legacy AA No.176)
Variant Type:
Point
Domain:
A1
Sequence Context:
CTA > CGA
Variant Effect:
Missense
Location:
Exon 4
No of bases:
No. of cases reported:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Individual Case Information :
Show
c.584T>C
p.(Leu195Pro) (Legacy AA No.176)
Variant Type:
Point
Domain:
A1
Sequence Context:
CTA > CCA
Variant Effect:
Missense
Location:
Exon 4
No of bases:
No. of cases reported:
3
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Individual Case Information :
Show