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rs80338892

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs80338892(A;A)
Make rs80338892(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position2167905
GeneTH
is asnp
is mentioned by
dbSNPrs80338892
ebirs80338892
HLIrs80338892
Exacrs80338892
Varsomers80338892
Maprs80338892
PheGenIrs80338892
hapmaprs80338892
1000 genomesrs80338892
hgdprs80338892
ensemblrs80338892
gopubmedrs80338892
geneviewrs80338892
scholarrs80338892
googlers80338892
pharmgkbrs80338892
gwascentralrs80338892
openSNPrs80338892
23andMers80338892
23andMe allrs80338892
SNP Nexus

SNPshotrs80338892
SNPdbers80338892
MSV3drs80338892
GWAS Ctlgrs80338892
GMAF0.0004591
Max Magnitude0
OMIM191290
Desc
Variant0003
Relatedalso
ClinVar
Risk rs80338892(A;A)
Alt rs80338892(A;A)
Reference rs80338892(G;G)
Significance Pathogenic
Disease Segawa syndrome
Variation info
Gene TH
CLNDBN Segawa syndrome, autosomal recessive
Reversed 1
HGVS NC_000011.9:g.2189135C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000013120.25,


[PMID 9703425] A common point mutation in the tyrosine hydroxylase gene in autosomal recessive L-DOPA-responsive dystonia in the Dutch population.


[PMID 9732974] Biochemical hallmarks of tyrosine hydroxylase deficiency.


[PMID 10407773] A review of biochemical and molecular genetic aspects of tyrosine hydroxylase deficiency including a novel mutation (291delC).


[PMID 12442699] Genetics and biochemistry of dopa-responsive dystonia: significance of striatal tyrosine hydroxylase protein loss.