Search Results: 3 unique variants retrieved
c.1897A>G
p.(Met633Val) (Legacy AA No.614)
Variant Type:
Point
Domain:
A2
Sequence Context:
ATG > GTG
Variant Effect:
Missense
Location:
Exon 12
No of bases:
No. of cases reported:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Individual Case Information :
Show
c.1898T>C
p.(Met633Thr) (Legacy AA No.614)
Variant Type:
Point
Domain:
A2
Sequence Context:
ATG > ACG
Variant Effect:
Missense
Location:
Exon 12
No of bases:
No. of cases reported:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Individual Case Information :
Show
c.1899G>T
p.(Met633Ile) (Legacy AA No.614)
Variant Type:
Point
Domain:
A2
Sequence Context:
ATG > ATT
Variant Effect:
Missense
Location:
Exon 12
No of bases:
1
No. of cases reported:
9
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Individual Case Information :
Show