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Factor IX Gene (F9) Variant Database  

F9
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Data Display Options:
UNIQUE (Without Case Data) :
EXCEL/CSV
SCREEN TABLE
MULTIPLE (With Case Data) :
EXCEL/CSV
SCREEN TABLE



Search Results: 6 unique variants retrieved

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  c.301C>G
p.(Pro101Ala) Legacy AA 55
Variant Type:
Point
Domain:
EGF1
cDNA number:
301
Variant Effect:
Missense
Location:
Exon(4)
CpG:
N
No. of cases reported:
25
No. of bases:
1
Allele Frequency (MAF):
4.56E-5
Molecular Graphics and Amino-acid Alignments
Please click to show detailed structural analysis of this variant.
Individual Case Information : Show
Case ID
FIX:C(%)
FIX:Ag(%)
Inheritance
Severity
Type
Inhibitors
Reporting Centre
Comments
Reference
615
10 to 12
49
Mild
II
United Kingdom
-
Green et al (1989)
616
10
<30
Mild
-
United States
-
Chen et al (1991a)
617
8
53
Mild
II
-
Centre B14 (unpublished)
618
6
-
Mild
-
United States
-
Li et al (2000)
619
6
-
Mild
-
United States
-
Li et al (2000)
620
-
-
Severe
-
United States
-
Li et al (2000)
621
11
58
Mild
II
United States
-
Spitzer et al (1990)
3662
-
-
Mild
-
NO
United States
-
Miller et al (2012)
3906
5.1
Mild
United States
Johnsen et al (2017)
3907
5.1
Mild
United States
Johnsen et al (2017)
3908
7
Mild
NO
United States
Johnsen et al (2017)
3909
8
Mild
NO
United States
Johnsen et al (2017)
3910
11
Mild
United States
Johnsen et al (2017)
3911
10
Mild
NO
United States
Johnsen et al (2017)
3912
11
Mild
United States
Johnsen et al (2017)
3913
2
Moderate
NO
United States
Johnsen et al (2017)
3914
9
Mild
NO
United States
Johnsen et al (2017)
3915
11
Mild
United States
Johnsen et al (2017)
3916
9
Mild
United States
Johnsen et al (2017)
3917
9
Mild
NO
United States
Johnsen et al (2017)
3918
5
Moderate
NO
United States
Johnsen et al (2017)
3919
8
Mild
NO
United States
Johnsen et al (2017)
3920
6
Mild
NO
United States
Johnsen et al (2017)
3921
6
Mild
NO
United States
Johnsen et al (2017)
3922
8
Mild
NO
United States
Johnsen et al (2017)
  c.301C>T
p.(Pro101Ser) Legacy AA 55
Variant Type:
Point
Domain:
EGF1
cDNA number:
301
Variant Effect:
Missense
Location:
Exon(4)
CpG:
N
No. of cases reported:
1
No. of bases:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Please click to show detailed structural analysis of this variant.
Individual Case Information : Show
Case ID
FIX:C(%)
FIX:Ag(%)
Inheritance
Severity
Type
Inhibitors
Reporting Centre
Comments
Reference
622
12
52
Mild
II
United Kingdom
-
Green et al (1991)
  c.301C>A
p.(Pro101Thr) Legacy AA 55
Variant Type:
Point
Domain:
EGF1
cDNA number:
301
Variant Effect:
Missense
Location:
Exon(4)
CpG:
N
No. of cases reported:
2
No. of bases:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Please click to show detailed structural analysis of this variant.
Individual Case Information : Show
Case ID
FIX:C(%)
FIX:Ag(%)
Inheritance
Severity
Type
Inhibitors
Reporting Centre
Comments
Reference
614
13
95
Mild
II
-
Centre B24 (unpublished)
3661
-
-
Mild
-
NO
United States
-
Miller et al (2012)
  c.302C>G
p.(Pro101Arg) Legacy AA 55
Variant Type:
Point
Domain:
EGF1
cDNA number:
302
Variant Effect:
Missense
Location:
Exon(4)
CpG:
N
No. of cases reported:
1
No. of bases:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Please click to show detailed structural analysis of this variant.
Individual Case Information : Show
Case ID
FIX:C(%)
FIX:Ag(%)
Inheritance
Severity
Type
Inhibitors
Reporting Centre
Comments
Reference
624
22
-
Mild
-
Spain
-
Montejo et al (1999)
  c.302C>A
p.(Pro101Gln) Legacy AA 55
Variant Type:
Point
Domain:
EGF1
cDNA number:
302
Variant Effect:
Missense
Location:
Exon(4)
CpG:
N
No. of cases reported:
1
No. of bases:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Please click to show detailed structural analysis of this variant.
Individual Case Information : Show
Case ID
FIX:C(%)
FIX:Ag(%)
Inheritance
Severity
Type
Inhibitors
Reporting Centre
Comments
Reference
623
6
34
Mild
II
United States
-
Ketterling et al (1993A)
  c.302C>T
p.(Pro101Leu) Legacy AA 55
Variant Type:
Point
Domain:
EGF1
cDNA number:
302
Variant Effect:
Missense
Location:
Exon(4)
CpG:
N
No. of cases reported:
1
No. of bases:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Please click to show detailed structural analysis of this variant.
Individual Case Information : Show
Case ID
FIX:C(%)
FIX:Ag(%)
Inheritance
Severity
Type
Inhibitors
Reporting Centre
Comments
Reference
625
26
-
Mild
-
United Kingdom
-
Green et al (1991)
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