Search Results: 2 unique variants retrieved
c.574G>C
p.(Ala192Pro) (146)
Variant Type:
Point
Domain:
Act-Peptide
cDNA number:
574
Variant Effect:
Missense
Location:
Exon(6)
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.575delC
p.(Ala192Valfs*11) (146)
Variant Type:
Deletion
Domain:
Act-Peptide
cDNA number:
575
Variant Effect:
Frameshift
Location:
Exon(6)
CpG:
N
No. of cases reported:
1
No. of bases:
1
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 6.
Individual Case Information :
Show