rs386834132

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(CT;CT)	0	common in clinvar
(TC;TC)	0	common in clinvar

Make rs386834132(-;-)

Make rs386834132(-;CT)

Reference

GRCh38 38.1/141

Chromosome

8

Position

1780268

Gene

CLN8

is a	snp
is	mentioned by
dbSNP	rs386834132
dbSNP (classic)	rs386834132
ClinGen	rs386834132
ebi	rs386834132
HLI	rs386834132
Exac	rs386834132
Gnomad	rs386834132
Varsome	rs386834132
LitVar	rs386834132
Map	rs386834132
PheGenI	rs386834132
Biobank	rs386834132
1000 genomes	rs386834132
hgdp	rs386834132
ensembl	rs386834132
geneview	rs386834132
scholar	rs386834132
google	rs386834132
pharmgkb	rs386834132
gwascentral	rs386834132
openSNP	rs386834132
23andMe	rs386834132
SNPshot	rs386834132
SNPdbe	rs386834132
MSV3d	rs386834132
GWAS Ctlg	rs386834132

Max Magnitude

0

ClinVar
Risk	rs386834132(-;-)
Alt	rs386834132(-;-)
Reference	Rs386834132(TC;TC)
Significance	Probable-Pathogenic
Disease	Ceroid lipofuscinosis neuronal 8
Variation	info
Gene	CLN8
CLNDBN	Ceroid lipofuscinosis neuronal 8
Reversed	0
HGVS	NC_000008.10:g.1728434_1728435delCT
CLNSRC	ClinVar
CLNACC	RCV000050126.2, RCV000197221.1,

[PMID 22220808] Variant late-infantile neuronal ceroid lipofuscinosis due to a novel heterozygous CLN8 mutation and de novo 8p23.3 deletion.