Search Results: 2 unique variants retrieved
c.608T>G
p.(Leu203Arg) (Legacy AA No.184)
Variant Type:
Point
Domain:
A1
Sequence Context:
CTG > CGG
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.608T>C
p.(Leu203Pro) (Legacy AA No.184)
Variant Type:
Point
Domain:
A1
Sequence Context:
CTG > CCG
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