rs119455958

Orientation

minus

Stabilized

minus

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

Make rs119455958(A;G)

Make rs119455958(G;G)

Reference

GRCh38 38.1/141

Chromosome

11

Position

6616690

Gene

TPP1

is a	snp
is	mentioned by
dbSNP	rs119455958
dbSNP (classic)	rs119455958
ClinGen	rs119455958
ebi	rs119455958
HLI	rs119455958
Exac	rs119455958
Gnomad	rs119455958
Varsome	rs119455958
LitVar	rs119455958
Map	rs119455958
PheGenI	rs119455958
Biobank	rs119455958
1000 genomes	rs119455958
hgdp	rs119455958
ensembl	rs119455958
geneview	rs119455958
scholar	rs119455958
google	rs119455958
pharmgkb	rs119455958
gwascentral	rs119455958
openSNP	rs119455958
23andMe	rs119455958
SNPshot	rs119455958
SNPdbe	rs119455958
MSV3d	rs119455958
GWAS Ctlg	rs119455958

Max Magnitude

0

OMIM	607998
Desc
Variant	0008
Related	also

ClinVar
Risk	rs119455958(G;G)
Alt	rs119455958(G;G)
Reference	Rs119455958(A;A)
Significance	Pathogenic
Disease	Ceroid lipofuscinosis neuronal 2
Variation	info
Gene	TPP1
CLNDBN	Ceroid lipofuscinosis neuronal 2
Reversed	1
HGVS	NC_000011.9:g.6637921T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein) UniProtKB (variants)
CLNACC	RCV000002767.4,

[PMID 12376936] Late infantile neuronal ceroid lipofuscinosis: quantitative description of the clinical course in patients with CLN2 mutations.