rs121918148

Orientation

plus

Stabilized

plus

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

Reference

GRCh38 38.1/141

Chromosome

2

Position

127421397

Gene

PROC

is a	snp
is	mentioned by
dbSNP	rs121918148
dbSNP (classic)	rs121918148
ClinGen	rs121918148
ebi	rs121918148
HLI	rs121918148
Exac	rs121918148
Gnomad	rs121918148
Varsome	rs121918148
LitVar	rs121918148
Map	rs121918148
PheGenI	rs121918148
Biobank	rs121918148
1000 genomes	rs121918148
hgdp	rs121918148
ensembl	rs121918148
geneview	rs121918148
scholar	rs121918148
google	rs121918148
pharmgkb	rs121918148
gwascentral	rs121918148
openSNP	rs121918148
23andMe	rs121918148
SNPshot	rs121918148
SNPdbe	rs121918148
MSV3d	rs121918148
GWAS Ctlg	rs121918148

Max Magnitude

9

aka c.185A>C (p.Glu62Ala)

23andMe name: i5003626

OMIM	612283
Desc
Variant	0009
Related	also

ClinVar
Risk	Rs121918148(C;C)
Alt	Rs121918148(C;C)
Reference	Rs121918148(A;A)
Significance	Pathogenic
Disease	Thrombophilia
Variation	info
Gene	PROC
CLNDBN	Thrombophilia, hereditary, due to protein C deficiency, autosomal recessive
Reversed	0
HGVS	NC_000002.11:g.128178973A>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000000699.4,