Search Results: 2 unique variants retrieved
c.5896A>G
p.(Met1966Val) (Legacy AA No.1947)
Variant Type:
Point
Domain:
A3
Sequence Context:
ATG > GTG
Variant Effect:
Missense
Location:
Exon 18
No of bases:
1
No. of cases reported:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Individual Case Information :
Show
c.5898G>A
p.(Met1966Ile) (Legacy AA No.1947)
Variant Type:
Point
Domain:
A3
Sequence Context:
ATG > ATA
Variant Effect:
Missense
Location:
Exon 18
No of bases:
1
No. of cases reported:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Individual Case Information :
Show