rs4290270

This is a synonymous variant in the TPH2 gene — it does not change the protein's amino acid sequence.

▶

ClinVar annotation

Benign★☆☆☆
2 submitters1 publication

Tryptophan 5-monooxygenase deficiency

View on ClinVar →
▶

Research that mentions this SNP (1)

▶
Involvement of tryptophan hydroxylase 2 (TPH2) gene polymorphisms in susceptibility to coronary artery lesions in Korean children with Kawasaki disease
AssociationN=357Sung Wook Park et al.(2010)· European Journal of Pediatrics

This case-control study examined associations between TPH2 gene polymorphisms (rs7305115 and rs4290270) and Kawasaki disease with coronary artery lesions (CALs) in 101 Korean children versus 256 controls. While the SNPs showed no association with KD susceptibility itself, both SNPs demonstrated statistically significant associations with CAL development: rs7305115 AA genotype (OR=5.69, p=0.0004) and rs4290270 AA genotype (OR=7.98, p<0.0001) were associated with increased CAL risk in KD patients.

Traits studied:Coronary artery lesionsKawasaki disease
PubMedDOIMetascience Observatory

About TPH2

This gene encodes a member of the pterin-dependent aromatic acid hydroxylase family. The encoded protein catalyzes the first and rate limiting step in the biosynthesis of serotonin, an important hormone and neurotransmitter. Mutations in this gene may be associated with psychiatric diseases such as bipolar affective disorder and major depression. [provided by RefSeq, Feb 2016]

View all TPH2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Sign in to join the discussion.

Loading comments…