Search Results: 3 unique variants retrieved
c.109G>A
p.(Ala37Thr) Legacy AA -10
Variant Type:
Point
Domain:
Pro-Peptide
cDNA number:
109
Variant Effect:
Missense
Location:
Exon(2)
CpG:
N
Molecular Graphics and Amino-acid Alignments
Individual Case Information :
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c.110C>A
p.(Ala37Asp) Legacy AA -10
Variant Type:
Point
Domain:
Pro-Peptide
cDNA number:
110
Variant Effect:
Missense
Location:
Exon(2)
CpG:
N
No. of cases reported:
1
No. of bases:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Individual Case Information :
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c.110C>T
p.(Ala37Val) Legacy AA -10
Variant Type:
Point
Domain:
Pro-Peptide
cDNA number:
110
Variant Effect:
Missense
Location:
Exon(2)
CpG:
N
Molecular Graphics and Amino-acid Alignments
Individual Case Information :
Show