Search Results: 2 unique variants retrieved
c.529C>T
p.(Pro177Ser) (131)
Variant Type:
Point
Domain:
Linker
cDNA number:
529
Variant Effect:
Missense
Location:
Exon(6)
CpG:
N
No. of cases reported:
2
No. of bases:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Individual Case Information :
Show
c.530C>T
p.(Pro177Leu) (131)
Variant Type:
Point
Domain:
Linker
cDNA number:
530
Variant Effect:
Missense
Location:
Exon(6)
CpG:
No. of cases reported:
1
No. of bases:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Individual Case Information :
Show