Search Results: 2 unique variants retrieved
c.311T>C
p.(Val104Ala) (Legacy AA No.85)
Variant Type:
Point
Domain:
A1
Sequence Context:
GTC > GCC
Variant Effect:
Missense
Location:
Exon 3
No of bases:
No. of cases reported:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Individual Case Information :
Show
c.311T>A
p.(Val104Asp) (Legacy AA No.85)
Variant Type:
Point
Domain:
A1
Sequence Context:
GTC > GAC
Variant Effect:
Missense
Location:
Exon 3
No of bases:
1
No. of cases reported:
12
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Individual Case Information :
Show