Search Results: 4 unique variants retrieved
c.6274-8A>G
(Legacy AA No.2073)
Variant Type:
Point
Domain:
C1
Sequence Context:
Variant Effect:
Splice
Location:
Intron 21
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 | Splice) of mutation at Intron 21
Individual Case Information :
Show
c.6274G>A
p.(Val2092Met) (Legacy AA No.2073)
Variant Type:
Point
Domain:
C1
Sequence Context:
GTG > ATG
Variant Effect:
Missense
Location:
Exon 22
No of bases:
1
No. of cases reported:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Individual Case Information :
Show
c.6274-8A>G
(Legacy AA No.2073)
Variant Type:
Point
Domain:
C1
Sequence Context:
Variant Effect:
Splicing
Location:
Intron 22
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 | Splicing ) of mutation at Intron 22
Individual Case Information :
Show
c.6275T>G
p.(Val2092Gly) (Legacy AA No.2073)
Variant Type:
Point
Domain:
C1
Sequence Context:
GTG > GGG
Variant Effect:
Missense
Location:
Exon 22
No of bases:
No. of cases reported:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Individual Case Information :
Show