Have questions? Visit https://www.reddit.com/r/SNPedia

rs121909567

From SNPedia

Orientationminus
Stabilizedminus
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
ReferenceGRCh38 38.1/141
Chromosome1
Position173914570
GeneSERPINC1
is asnp
is mentioned by
dbSNPrs121909567
ebirs121909567
HLIrs121909567
Exacrs121909567
Varsomers121909567
Maprs121909567
PheGenIrs121909567
hapmaprs121909567
1000 genomesrs121909567
hgdprs121909567
ensemblrs121909567
gopubmedrs121909567
geneviewrs121909567
scholarrs121909567
googlers121909567
pharmgkbrs121909567
gwascentralrs121909567
openSNPrs121909567
23andMers121909567
23andMe allrs121909567
SNP Nexus

SNPshotrs121909567
SNPdbers121909567
MSV3drs121909567
GWAS Ctlgrs121909567
Max Magnitude6

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].

OMIM107300
Desc
Variant0038
Relatedalso
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
CLNACC RCV000019650.27,