rs386833631

Orientation

minus

Stabilized

minus

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

Make rs386833631(A;A)

Make rs386833631(A;G)

Reference

GRCh38 38.1/141

Chromosome

1

Position

40092507

Gene

PPT1

is a	snp
is	mentioned by
dbSNP	rs386833631
dbSNP (classic)	rs386833631
ClinGen	rs386833631
ebi	rs386833631
HLI	rs386833631
Exac	rs386833631
Gnomad	rs386833631
Varsome	rs386833631
LitVar	rs386833631
Map	rs386833631
PheGenI	rs386833631
Biobank	rs386833631
1000 genomes	rs386833631
hgdp	rs386833631
ensembl	rs386833631
geneview	rs386833631
scholar	rs386833631
google	rs386833631
pharmgkb	rs386833631
gwascentral	rs386833631
openSNP	rs386833631
23andMe	rs386833631
SNPshot	rs386833631
SNPdbe	rs386833631
MSV3d	rs386833631
GWAS Ctlg	rs386833631

Max Magnitude

0

ClinVar
Risk	rs386833631(A;A)
Alt	rs386833631(A;A)
Reference	Rs386833631(G;G)
Significance	Probable-Pathogenic
Disease	Ceroid lipofuscinosis neuronal 1
Variation	info
Gene	PPT1
CLNDBN	Ceroid lipofuscinosis neuronal 1
Reversed	1
HGVS	NC_000001.10:g.40558179C>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000049590.2,

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