Search Results: 2 unique variants retrieved
c.51_52dup
p.(Cys18Serfs*4) (-29)
Variant Type:
Insertion
Domain:
Signal Peptide
cDNA number:
51
Variant Effect:
Frameshift
Location:
Exon(1)
CpG:
N
No. of cases reported:
1
No. of bases:
2
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Structural Analysis is only available for missense variants and cannot be performed for this type (Insertion | Frameshift) of variant at Exon 1.
Individual Case Information :
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c.53G>T
p.(Cys18Phe) (-29)
Variant Type:
Point
Domain:
Signal Peptide
cDNA number:
53
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