Search Results: 4 unique variants retrieved
c.464G>T
p.(Cys155Phe) (109)
Variant Type:
Point
Domain:
EGF2
cDNA number:
464
Variant Effect:
Missense
Location:
Exon(5)
CpG:
N
No. of cases reported:
7
No. of bases:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Individual Case Information :
Show
c.464G>C
p.(Cys155Ser) (109)
Variant Type:
Point
Domain:
EGF2
cDNA number:
464
Variant Effect:
Missense
Location:
Exon(5)
CpG:
N
No. of cases reported:
4
No. of bases:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Individual Case Information :
Show
c.464G>A
p.(Cys155Tyr) (109)
Variant Type:
Point
Domain:
EGF2
cDNA number:
464
Variant Effect:
Missense
Location:
Exon(5)
CpG:
N
No. of cases reported:
2
No. of bases:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Individual Case Information :
Show
c.465_470dup
p.(Ser156_Cys157insCysSer) (109)
Variant Type:
Duplication
Domain:
EGF2
cDNA number:
465
Variant Effect:
Inframe
Location:
Exon(5)
CpG:
N
No. of cases reported:
1
No. of bases:
6
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Structural Analysis is only available for missense variants and cannot be performed for this type (Duplication | Inframe) of variant at Exon 5.
Individual Case Information :
Show