rs119455957

Orientation

minus

Stabilized

minus

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

Make rs119455957(G;T)

Make rs119455957(T;T)

Reference

GRCh38 38.1/141

Chromosome

11

Position

6616696

Gene

TPP1

is a	snp
is	mentioned by
dbSNP	rs119455957
dbSNP (classic)	rs119455957
ClinGen	rs119455957
ebi	rs119455957
HLI	rs119455957
Exac	rs119455957
Gnomad	rs119455957
Varsome	rs119455957
LitVar	rs119455957
Map	rs119455957
PheGenI	rs119455957
Biobank	rs119455957
1000 genomes	rs119455957
hgdp	rs119455957
ensembl	rs119455957
geneview	rs119455957
scholar	rs119455957
google	rs119455957
pharmgkb	rs119455957
gwascentral	rs119455957
openSNP	rs119455957
23andMe	rs119455957
SNPshot	rs119455957
SNPdbe	rs119455957
MSV3d	rs119455957
GWAS Ctlg	rs119455957

Max Magnitude

0

OMIM	607998
Desc
Variant	0007
Related	also

ClinVar
Risk	rs119455957(T;T)
Alt	rs119455957(T;T)
Reference	Rs119455957(G;G)
Significance	Pathogenic
Disease	Ceroid lipofuscinosis neuronal 2
Variation	info
Gene	TPP1
CLNDBN	Ceroid lipofuscinosis neuronal 2
Reversed	1
HGVS	NC_000011.9:g.6637927C>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein) UniProtKB (variants)
CLNACC	RCV000002766.5,

[PMID 11339651] Heterogeneity of late-infantile neuronal ceroid lipofuscinosis.

[PMID 12414822] Identification of novel CLN2 mutations shows Canadian specific NCL2 alleles.