Search Results: 2 unique variants retrieved
c.311_312delAT
p.(Asn104Argfs*7) (58)
Variant Type:
Deletion
Domain:
EGF1
cDNA number:
311
Variant Effect:
Frameshift
Location:
Exon(4)
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 (Deletion | Frameshift) of variant at Exon 4.
Individual Case Information :
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c.312T>G
p.(Asn104Lys) (58)
Variant Type:
Point
Domain:
EGF1
cDNA number:
312
Variant Effect:
Missense
Location:
Exon(4)
CpG:
N
No. of cases reported:
2
No. of bases:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Individual Case Information :
Show