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Search Results: 2 unique variants retrieved
c.311_312delAT
p.Asn104Argfs*7 (58)
Mutation Type:
Deletion
Domain:
EGF1
Nucleotide number:
10425
Mutation Effect:
Frameshift
Location:
Exon(4)
CpG:
N
No. of patients reported:
1
No. of bases:
2
Structural Information
Structural Analysis is only available for missense mutations and cannot be performed for this type (Deletion | Frameshift) of mutation at Exon 4.
Patient Information : Show
c.312T>G
p.Asn104Lys (58)
Mutation Type:
Point
Domain:
EGF1
Nucleotide number:
10426
Mutation Effect:
Missense
Location:
Exon(4)
CpG:
N
No. of patients reported:
1
No. of bases:
1
Structural Information
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