rs397515633

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;T)	5.8	Idiopathic basal ganglia calcification-5

Make rs397515633(T;T)

Reference

GRCh38 38.1/141

Chromosome

22

Position

39231633

Gene

PDGFB

is a	snp
is	mentioned by
dbSNP	rs397515633
dbSNP (classic)	rs397515633
ClinGen	rs397515633
ebi	rs397515633
HLI	rs397515633
Exac	rs397515633
Gnomad	rs397515633
Varsome	rs397515633
LitVar	rs397515633
Map	rs397515633
PheGenI	rs397515633
Biobank	rs397515633
1000 genomes	rs397515633
hgdp	rs397515633
ensembl	rs397515633
geneview	rs397515633
scholar	rs397515633
google	rs397515633
pharmgkb	rs397515633
gwascentral	rs397515633
openSNP	rs397515633
23andMe	rs397515633
SNPshot	rs397515633
SNPdbe	rs397515633
MSV3d	rs397515633
GWAS Ctlg	rs397515633

Max Magnitude

5.8

aka c.445C>T (p.Arg149Ter, R149X or R149*)

Considered "definitely pathogenic" in the Movement Disorder Society Genetic mutation database (MDSGene) for autosomal dominant idiopathic basal ganglia calcification-5

See also OMIM 190040.0006

ClinVar
Risk	rs397515633(T;T)
Alt	rs397515633(T;T)
Reference	Rs397515633(C;C)
Significance	Pathogenic
Disease	Idiopathic basal ganglia calcification 5
Variation	info
Gene	PDGFB
CLNDBN	Idiopathic basal ganglia calcification 5
Reversed	1
HGVS	NC_000022.10:g.39627638G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000066218.16,