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Search Results: 2 unique variants retrieved

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  c.76delinsAGATATCCTAAA
p.(Ala26Argfs*20) Legacy AA -21
Variant Type:
Indel
Domain:
Signal Peptide
cDNA number:
76
Variant Effect:
Frameshift
Location:
Exon(1)
CpG:
N
No. of cases reported:
1
No. of bases:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Structural Analysis is only available for missense variants and cannot be performed for this type (Indel | Frameshift) of variant at Exon 1.
Individual Case Information : Show
Case ID
FIX:C(%)
FIX:Ag(%)
Inheritance
Severity
Type
Inhibitors
Reporting Centre
Comments
Reference
3520
<1
-
Sporadic
Severe
-
YES
Argentina
-
Radic et al (2013)
  c.77C>A
p.(Ala26Asp) Legacy AA -21
Variant Type:
Point
Domain:
Signal Peptide
cDNA number:
77
Variant Effect:
Missense
Location:
Exon(1)
CpG:
N
No. of cases reported:
3
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
109
2
2
Moderate
I
-
Centre B24 (unpublished)
3840
4
Moderate
NO
United States
Johnsen et al (2017)
3841
3
Moderate
United States
Johnsen et al (2017)
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