rs119455955

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;T)	3	Carrier of a CLN2 mutation
(T;T)	8.8	CLN2 disease (predicted)

Reference

GRCh38 38.1/141

Chromosome

11

Position

6617040

Gene

TPP1

is a	snp
is	mentioned by
dbSNP	rs119455955
dbSNP (classic)	rs119455955
ClinGen	rs119455955
ebi	rs119455955
HLI	rs119455955
Exac	rs119455955
Gnomad	rs119455955
Varsome	rs119455955
LitVar	rs119455955
Map	rs119455955
PheGenI	rs119455955
Biobank	rs119455955
1000 genomes	rs119455955
hgdp	rs119455955
ensembl	rs119455955
geneview	rs119455955
scholar	rs119455955
google	rs119455955
pharmgkb	rs119455955
gwascentral	rs119455955
openSNP	rs119455955
23andMe	rs119455955
SNPshot	rs119455955
SNPdbe	rs119455955
MSV3d	rs119455955
GWAS Ctlg	rs119455955

Max Magnitude

8.8

rs119455955, also known as c.622C>T, p.Arg208Ter and R208X, is one of two recessively inherited mutations in the TPP1 (aka CLN2) gene, one of which is present in ~80% of patients with CLN2 disease (neuronal ceroid lipofuscinosis).[PMID 21990111]

Caregivers and families with a suspected CLN2 mutation-based patient are encouraged to reach out to patient advocacy groups and related healthcare practitioners, for example the Batten disease community or the CLN2 Connection, since CLN2-specific disease management strategies can greatly impact patient outcomes when implemented in a timely and appropriate manner.

OMIM	607998
Desc
Variant	0003
Related	also

ClinVar
Risk	Rs119455955(T;T)
Alt	Rs119455955(T;T)
Reference	Rs119455955(C;C)
Significance	Pathogenic
Disease	Ceroid lipofuscinosis neuronal 2 not provided Inborn genetic diseases Neuronal ceroid lipofuscinosis
Variation	info
Gene	TPP1
CLNDBN	Ceroid lipofuscinosis neuronal 2 not provided Inborn genetic diseases Neuronal ceroid lipofuscinosis
Reversed	1
HGVS	NC_000011.9:g.6638271G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000002762.4, RCV000189769.3, RCV000210605.1, RCV000230952.2,