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rs2904552

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs2904552(C;T)
Make rs2904552(T;T)
ReferenceGRCh38 38.1/141
Chromosome22
Position18918451
GenePRODH
is asnp
is mentioned by
dbSNPrs2904552
ebirs2904552
HLIrs2904552
Exacrs2904552
Varsomers2904552
Maprs2904552
PheGenIrs2904552
hapmaprs2904552
1000 genomesrs2904552
hgdprs2904552
ensemblrs2904552
gopubmedrs2904552
geneviewrs2904552
scholarrs2904552
googlers2904552
pharmgkbrs2904552
gwascentralrs2904552
openSNPrs2904552
23andMers2904552
23andMe allrs2904552
SNP Nexus

SNPshotrs2904552
SNPdbers2904552
MSV3drs2904552
GWAS Ctlgrs2904552
GMAF0.05005
Max Magnitude0
OMIM606810
DescHYPERPROLINEMIA, TYPE I
Variant0007
Relatedalso
Neighborrs2904551
Distance30
Venter snp
Source plos
Gene PRODH
allele T
frequency
sift AFFECT FUNCTION
HuRef 1103691005850
Disease Association Defects in PRODH are the cause of type I hyperprolinaemia (MIM:239500). It is a disorder characterized by elevated serum proline levels. May be involved in the psychiatric and behavioral phenotypes associated in the 22q11 velocardiofacial syndrome.



ClinVar
Risk rs2904552(T;T)
Alt rs2904552(T;T)
Reference rs2904552(C;C)
Significance Other
Disease Proline dehydrogenase deficiency Schizophrenia 4
Variation info
Gene PRODH
CLNDBN Proline dehydrogenase deficiency Schizophrenia 4
Reversed 0
HGVS NC_000022.10:g.18905964C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000004224.5, RCV000004225.5,



GET Evidence
PRODH-R431H
aa_change Arg431His
aa_change_short R431H
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.0797991
summary This variant is associated with type I hyperprolinemia and leads to a reduction of POX activity to 60% of wildtype.