rs386833965

plus

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

Make rs386833965(-;-)

Make rs386833965(-;TT)

Reference

GRCh38 38.1/141

Chromosome

13

Position

77000817

Gene	CLN5, FBXL3

is a	snp
is	mentioned by
dbSNP	rs386833965
dbSNP (classic)	rs386833965
ClinGen	rs386833965
ebi	rs386833965
HLI	rs386833965
Exac	rs386833965
Gnomad	rs386833965
Varsome	rs386833965
LitVar	rs386833965
Map	rs386833965
PheGenI	rs386833965
Biobank	rs386833965
1000 genomes	rs386833965
hgdp	rs386833965
ensembl	rs386833965
geneview	rs386833965
scholar	rs386833965
google	rs386833965
pharmgkb	rs386833965
gwascentral	rs386833965
openSNP	rs386833965
23andMe	rs386833965
SNPshot	rs386833965
SNPdbe	rs386833965
MSV3d	rs386833965
GWAS Ctlg	rs386833965

Max Magnitude

0

ClinVar
Risk	rs386833965(-;-)
Alt	rs386833965(-;-)
Reference	Rs386833965(TT;TT)
Significance	Probable-Pathogenic
Disease	Ceroid lipofuscinosis neuronal 5
Variation	info
Gene	CLN5
CLNDBN	Ceroid lipofuscinosis neuronal 5
Reversed	0
HGVS	NC_000013.10:g.77574952_77574953delTT
CLNSRC	ClinVar
CLNACC	RCV000049940.1,

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