Have questions? Visit https://www.reddit.com/r/SNPedia

rs387906503

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 1 deletion variant of uncertain significance
(-;T) 1 deletion variant of uncertain significance
(T;T) 0 common in clinvar
ReferenceGRCh38 38.1/141
ChromosomeX
Position116172682
GeneAGTR2
is asnp
is mentioned by
dbSNPrs387906503
ebirs387906503
HLIrs387906503
Exacrs387906503
Varsomers387906503
Maprs387906503
PheGenIrs387906503
hapmaprs387906503
1000 genomesrs387906503
hgdprs387906503
ensemblrs387906503
gopubmedrs387906503
geneviewrs387906503
scholarrs387906503
googlers387906503
pharmgkbrs387906503
gwascentralrs387906503
openSNPrs387906503
23andMers387906503
23andMe allrs387906503
SNP Nexus

SNPshotrs387906503
SNPdbers387906503
MSV3drs387906503
GWAS Ctlgrs387906503
Max Magnitude1

rs387906503, also known as c.402delT and p.Phe134Leufs, represents a rare variant in the angiotensin II receptor, type 2 AGTR2 gene on the X chromosome.

This deletion mutation is classified as of "uncertain significance" in ClinVar.


ClinVar
Risk rs387906503(;)
Alt rs387906503(;)
Reference rs387906503(T;T)
Significance Pathogenic
Disease not provided
Variation info
Gene AGTR2
CLNDBN not provided
Reversed 0
HGVS NC_000023.10:g.115303935delT
CLNSRC OMIM Allelic Variant
CLNACC RCV000088652.2,