Search Results: 2 unique variants retrieved
c.88G>A
p.(Val30Ile) (-17)
Variant Type:
Point
Domain:
Pro-Peptide
cDNA number:
88
Variant Effect:
Missense
Location:
Exon(1)
CpG:
N
No. of cases reported:
10
No. of bases:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Individual Case Information :
Show
c.88G>C
p.(Val30Leu) (-17)
Variant Type:
Point
Domain:
Pro-Peptide
cDNA number:
88
Variant Effect:
Missense
Location:
Exon(1)
CpG:
N
No. of cases reported:
1
No. of bases:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Individual Case Information :
Show