rs121434286

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(G;G)	0	common in clinvar

Make rs121434286(A;A)

Make rs121434286(A;G)

Reference

GRCh38 38.1/141

Chromosome

16

Position

28482500

Gene

CLN3

is a	snp
is	mentioned by
dbSNP	rs121434286
dbSNP (classic)	rs121434286
ClinGen	rs121434286
ebi	rs121434286
HLI	rs121434286
Exac	rs121434286
Gnomad	rs121434286
Varsome	rs121434286
LitVar	rs121434286
Map	rs121434286
PheGenI	rs121434286
Biobank	rs121434286
1000 genomes	rs121434286
hgdp	rs121434286
ensembl	rs121434286
geneview	rs121434286
scholar	rs121434286
google	rs121434286
pharmgkb	rs121434286
gwascentral	rs121434286
openSNP	rs121434286
23andMe	rs121434286
SNPshot	rs121434286
SNPdbe	rs121434286
MSV3d	rs121434286
GWAS Ctlg	rs121434286

Max Magnitude

0

OMIM	607042
Desc
Variant	0005
Related	also

ClinVar
Risk	rs121434286(A;A) rs121434286(T;T)
Alt	rs121434286(A;A) rs121434286(T;T)
Reference	Rs121434286(G;G)
Significance	Pathogenic
Disease	Juvenile neuronal ceroid lipofuscinosis Ceroid lipofuscinosis
Variation	info
Gene	CLN3 NPIPB8
CLNDBN	Juvenile neuronal ceroid lipofuscinosis Ceroid lipofuscinosis, neuronal, 3, protracted
Reversed	1
HGVS	NC_000016.9:g.28493821C>A; NC_000016.9:g.28493821C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000049702.1, RCV000003735.3, RCV000055839.1,

[PMID 21990111] Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses.