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rs1154510

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;G) 0.5 likely to be benign
(C;C) 0
(G;G) 0 common in complete genomics
ReferenceGRCh38 38.1/141
Chromosome12
Position121857429
GeneHPD
is asnp
is mentioned by
dbSNPrs1154510
ebirs1154510
HLIrs1154510
Exacrs1154510
Varsomers1154510
Maprs1154510
PheGenIrs1154510
hapmaprs1154510
1000 genomesrs1154510
hgdprs1154510
ensemblrs1154510
gopubmedrs1154510
geneviewrs1154510
scholarrs1154510
googlers1154510
pharmgkbrs1154510
gwascentralrs1154510
openSNPrs1154510
23andMers1154510
23andMe allrs1154510
SNP Nexus

SNPshotrs1154510
SNPdbers1154510
MSV3drs1154510
GWAS Ctlgrs1154510
GMAF0.1322
Max Magnitude0.5

rs1154510, also known as c.97G>A, p.Ala33Thr and A33T, represents a SNP in the HPD gene on chromosome 12.

Although the rs1154510(A) minor allele is listed in ClinVar as pathogenic as a dominant mutation leading to hawkinsinuria, this seems quite unlikely given that the frequency of this minor allele is around 10 - 15% in most populations.

? (A;A) (A;G) (G;G) 28


Venter snp
Source plos
Gene HPD
allele C
frequency 0.883
sift TOLERATED
HuRef 1103649556534
Disease Association Defects in HPD are the cause of tyrosinemia type III (MIM:276710). It is an autosomal recessive disorder presenting with acute intermittent ataxia and mild mental retardation.



OMIM609695
Desc
Variant0005
Relatedalso


ClinVar
Risk rs1154510(G;G)
Alt rs1154510(G;G)
Reference rs1154510(A;A)
Significance Pathogenic
Disease 4-Alpha-hydroxyphenylpyruvate hydroxylase deficiency
Variation info
Gene HPD
CLNDBN 4-Alpha-hydroxyphenylpyruvate hydroxylase deficiency
Reversed 1
HGVS NC_000012.11:g.122295335T\x3d
CLNSRC OMIM Allelic Variant
CLNACC RCV000001643.2,



GET Evidence
HPD-T33A
aa_change Thr33Ala
aa_change_short T33A
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.901748
summary