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rs119466000

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 carrier for Leigh syndrome, French Canadian type allele
(T;T) 5 Leigh syndrome, French Canadian type
ReferenceGRCh38 38.1/141
Chromosome2
Position43974244
GeneLRPPRC
is asnp
is mentioned by
dbSNPrs119466000
dbSNP (old)rs119466000
ClinGenrs119466000
ebirs119466000
HLIrs119466000
Exacrs119466000
Gnomadrs119466000
Varsomers119466000
Maprs119466000
PheGenIrs119466000
Biobankrs119466000
1000 genomesrs119466000
hgdprs119466000
ensemblrs119466000
gopubmedrs119466000
geneviewrs119466000
scholarrs119466000
googlers119466000
pharmgkbrs119466000
gwascentralrs119466000
openSNPrs119466000
23andMers119466000
23andMe allrs119466000
SNPshotrs119466000
SNPdbers119466000
MSV3drs119466000
GWAS Ctlgrs119466000
Max Magnitude5

rs119466000, also known as c.1061C>T, p.Ala354Val and A354V, represents a rare variant in the LRPPRC gene on chromosome 2.

The rs119466000(T) allele, when inherited recessively, in considered pathogenic for a form of Leigh syndrome known as the French-Canadian type, due to this being a founder mutation in that population.

23andMe name: i5012749

OMIM607544
Desc
Variant0001
Relatedalso
ClinVar
Risk Rs119466000(T;T)
Alt Rs119466000(T;T)
Reference Rs119466000(C;C)
Significance Pathogenic
Disease Leigh syndrome
Variation info
Gene LRPPRC
CLNDBN Leigh syndrome, French Canadian type
Reversed 1
HGVS NC_000002.11:g.44201383G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000003257.4,