rs386834124

plus

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

Make rs386834124(A;A)

Make rs386834124(A;G)

Reference

GRCh38 38.1/141

Chromosome

8

Position

1771263

Gene

CLN8

is a	snp
is	mentioned by
dbSNP	rs386834124
dbSNP (classic)	rs386834124
ClinGen	rs386834124
ebi	rs386834124
HLI	rs386834124
Exac	rs386834124
Gnomad	rs386834124
Varsome	rs386834124
LitVar	rs386834124
Map	rs386834124
PheGenI	rs386834124
Biobank	rs386834124
1000 genomes	rs386834124
hgdp	rs386834124
ensembl	rs386834124
geneview	rs386834124
scholar	rs386834124
google	rs386834124
pharmgkb	rs386834124
gwascentral	rs386834124
openSNP	rs386834124
23andMe	rs386834124
SNPshot	rs386834124
SNPdbe	rs386834124
MSV3d	rs386834124
GWAS Ctlg	rs386834124

Max Magnitude

0

ClinVar
Risk	rs386834124(A;A)
Alt	rs386834124(A;A)
Reference	Rs386834124(G;G)
Significance	Probable-Pathogenic
Disease	Ceroid lipofuscinosis neuronal 8 Neuronal ceroid lipofuscinosis
Variation	info
Gene	CLN8
CLNDBN	Ceroid lipofuscinosis neuronal 8 Neuronal ceroid lipofuscinosis
Reversed	0
HGVS	NC_000008.10:g.1719429G>A
CLNSRC	UniProtKB (protein)
CLNACC	RCV000050117.1, RCV000464589.1,

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