Variant #0000814842 (NC_000005.9:g.176831232G>T, NM_000505.3:c.983C>A (F12))

Individual ID 00385765
Chromosome 5
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.176831232G>T
DNA change (hg38) g.177404231G>T
Published as -
ISCN -
DB-ID F12_000008 See all 38 reported entries
Variant remarks A single French pedigree with women and man.
C1Inh function drops of 10% to 40% compared to normal in female individuals, in line with the cleavage of the serpin from 105 to 95 kd without development of serpin-protease association, suggesting p.(Met328Lys) beyond the control of C1-INH
Reference Journal: Martin 2007
ClinVar ID ClinVar-VCV000001169
dbSNP ID rs118204456
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Christian Drouet
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Christian Drouet
Date created 2021-10-14 22:27:00 +02:00 (CEST)
Date last edited 2021-10-24 11:13:21 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
F12 NM_000505.3 +/. 9 c.983C>A r.(?) p.(Thr328Lys)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000386993 DNA SEQ blood - F12 1 Christian Drouet


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