Search Results: 2 unique variants retrieved
c.970C>T
p.(Gln324*) (Legacy AA No.305)
Variant Type:
Point
Domain:
A1
Sequence Context:
CAG > TAG
Variant Effect:
Nonsense
Location:
Exon 7
No of bases:
No. of cases reported:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Structural Analysis cannot be performed for this type (Point | Nonsense) of mutation at Exon 7
Individual Case Information :
Show
c.971A>C
p.(Gln324Pro) (Legacy AA No.305)
Variant Type:
Point
Domain:
A1
Sequence Context:
CAG > CCG
Variant Effect:
Missense
Location:
Exon 7
No of bases:
No. of cases reported:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Individual Case Information :
Show