rs121909567

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;T)	3	Carrier for an antithrombin III deficiency allele; affect unclear
(T;T)	6	Antithrombin III deficiency

Reference

GRCh38 38.1/141

Chromosome

1

Position

173914570

Gene

SERPINC1

is a	snp
is	mentioned by
dbSNP	rs121909567
dbSNP (classic)	rs121909567
ClinGen	rs121909567
ebi	rs121909567
HLI	rs121909567
Exac	rs121909567
Gnomad	rs121909567
Varsome	rs121909567
LitVar	rs121909567
Map	rs121909567
PheGenI	rs121909567
Biobank	rs121909567
1000 genomes	rs121909567
hgdp	rs121909567
ensembl	rs121909567
geneview	rs121909567
scholar	rs121909567
google	rs121909567
pharmgkb	rs121909567
gwascentral	rs121909567
openSNP	rs121909567
23andMe	rs121909567
SNPshot	rs121909567
SNPdbe	rs121909567
MSV3d	rs121909567
GWAS Ctlg	rs121909567

Max Magnitude

6

rs121909567, also known as c.391C>T, p.Leu131Phe and L131F, represents a rare mutation in the SERPINC1 gene on chromosome 1.

Mutations in the SERPINC1 gene leading to antithrombin III deficiency are normally dominantly inherited, but rs121909567(T) may be a recessively inherited mutation, based on comments in both OMIM and [PMID 27214036].

OMIM	107300
Desc
Variant	0038
Related	also

ClinVar
Risk	Rs121909567(T;T)
Alt	Rs121909567(T;T)
Reference	Rs121909567(C;C)
Significance	Pathogenic
Disease	Antithrombin III deficiency
Variation	info
Gene	SERPINC1
CLNDBN	Antithrombin III deficiency
Reversed	1
HGVS	NC_000001.10:g.173883708G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000019650.27,