rs121918150

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;A)	9	Complete protein-C deficiency; severe thrombophilia
(A;G)	3	Carrier of a thrombophilia due to protein C deficiency mutation
(G;G)	0	common in clinvar

Reference

GRCh38 38.1/141

Chromosome

2

Position

127428560

Gene	LOC105373608, PROC

is a	snp
is	mentioned by
dbSNP	rs121918150
dbSNP (classic)	rs121918150
ClinGen	rs121918150
ebi	rs121918150
HLI	rs121918150
Exac	rs121918150
Gnomad	rs121918150
Varsome	rs121918150
LitVar	rs121918150
Map	rs121918150
PheGenI	rs121918150
Biobank	rs121918150
1000 genomes	rs121918150
hgdp	rs121918150
ensembl	rs121918150
geneview	rs121918150
scholar	rs121918150
google	rs121918150
pharmgkb	rs121918150
gwascentral	rs121918150
openSNP	rs121918150
23andMe	rs121918150
SNPshot	rs121918150
SNPdbe	rs121918150
MSV3d	rs121918150
GWAS Ctlg	rs121918150

Max Magnitude

9

aka c.1000G>A, p.Gly334Ser, or G334S

23andMe name: i5003624

OMIM	612283
Desc
Variant	0011
Related	also

ClinVar
Risk	Rs121918150(A;A)
Alt	Rs121918150(A;A)
Reference	Rs121918150(G;G)
Significance	Pathogenic
Disease	Thrombophilia
Variation	info
Gene	PROC
CLNDBN	Thrombophilia, hereditary, due to protein C deficiency, autosomal recessive Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant
Reversed	0
HGVS	NC_000002.11:g.128186136G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000000701.4, RCV000195879.1,