EAHAD Factor VIII Variant Database
Data Display Options:
UNIQUE (Without Case Data) :
MULTIPLE (With Case Data) :



Search Results: 3 unique variants retrieved


  c.1912G>A
p.(Gly638Ser) (Legacy AA No.619)
Variant Type:
Point
Domain:
A2
Sequence Context:
GGC > AGC
Variant Effect:
Missense
Location:
Exon 13
No of bases:
1
No. of cases reported:
3
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Please click to see if there is the available information.
Individual Case Information : Show

  c.1913G>A
p.(Gly638Asp) (Legacy AA No.619)
Variant Type:
Point
Domain:
A2
Sequence Context:
GGC > GAC
Variant Effect:
Missense
Location:
Exon 13
No of bases:
1
No. of cases reported:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Please click to see if there is the available information.
Individual Case Information : Show

  c.1913G>T
p.(Gly638Val) (Legacy AA No.619)
Variant Type:
Point
Domain:
A2
Sequence Context:
GGC > GTC
Variant Effect:
Missense
Location:
Exon 13
No of bases:
1
No. of cases reported:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Please click to see if there is the available information.
Individual Case Information : Show