rs386833966

plus

Geno	Mag	Summary
(I;I)	0	common genotype
(T;T)	0	common in clinvar

Make rs386833966(-;-)

Make rs386833966(-;T)

Reference

GRCh38 38.1/141

Chromosome

13

Position

77000828

Gene	CLN5, FBXL3

is a	snp
is	mentioned by
dbSNP	rs386833966
dbSNP (classic)	rs386833966
ClinGen	rs386833966
ebi	rs386833966
HLI	rs386833966
Exac	rs386833966
Gnomad	rs386833966
Varsome	rs386833966
LitVar	rs386833966
Map	rs386833966
PheGenI	rs386833966
Biobank	rs386833966
1000 genomes	rs386833966
hgdp	rs386833966
ensembl	rs386833966
geneview	rs386833966
scholar	rs386833966
google	rs386833966
pharmgkb	rs386833966
gwascentral	rs386833966
openSNP	rs386833966
23andMe	rs386833966
SNPshot	rs386833966
SNPdbe	rs386833966
MSV3d	rs386833966
GWAS Ctlg	rs386833966

Max Magnitude

0

ClinVar
Risk	rs386833966(-;-)
Alt	rs386833966(-;-)
Reference	Rs386833966(T;T)
Significance	Probable-Pathogenic
Disease	Ceroid lipofuscinosis neuronal 5
Variation	info
Gene	CLN5
CLNDBN	Ceroid lipofuscinosis neuronal 5
Reversed	0
HGVS	NC_000013.10:g.77574963delT
CLNSRC	ClinVar
CLNACC	RCV000049941.1,

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