Search Results: 1 unique variants retrieved.
c.112A>C
p.(Asn38His) (-9)
Variant Type:
Point
Domain:
Pro-Peptide
cDNA number:
112
Variant Effect:
Missense
Location:
Exon(2)
CpG:
N
No. of cases reported:
2
No. of bases:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Individual Case Information :
Show