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rs119455955

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 Carrier of a CLN2 mutation
(T;T) 8.8 CLN2 disease (predicted)
ReferenceGRCh38 38.1/141
Chromosome11
Position6617040
GeneTPP1
is asnp
is mentioned by
dbSNPrs119455955
dbSNP (classic)rs119455955
ClinGenrs119455955
ebirs119455955
HLIrs119455955
Exacrs119455955
Gnomadrs119455955
Varsomers119455955
LitVarrs119455955
Maprs119455955
PheGenIrs119455955
Biobankrs119455955
1000 genomesrs119455955
hgdprs119455955
ensemblrs119455955
geneviewrs119455955
scholarrs119455955
googlers119455955
pharmgkbrs119455955
gwascentralrs119455955
openSNPrs119455955
23andMers119455955
23andMe allrs119455955
SNPshotrs119455955
SNPdbers119455955
MSV3drs119455955
GWAS Ctlgrs119455955
Max Magnitude8.8

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.

OMIM607998
Desc
Variant0003
Relatedalso
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,