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rs587782991

From SNPedia

Orientationplus
Geno Mag Summary
(CTT;CTT) 0 common in clinvar
Make rs587782991(-;-)
Make rs587782991(-;TCT)
Make rs587782991(TCT;TCT)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position140114993
GenePURA
is asnp
is mentioned by
dbSNPrs587782991
ebirs587782991
HLIrs587782991
Exacrs587782991
Varsomers587782991
Maprs587782991
PheGenIrs587782991
hapmaprs587782991
1000 genomesrs587782991
hgdprs587782991
ensemblrs587782991
gopubmedrs587782991
geneviewrs587782991
scholarrs587782991
googlers587782991
pharmgkbrs587782991
gwascentralrs587782991
openSNPrs587782991
23andMers587782991
23andMe allrs587782991
SNP Nexus

SNPshotrs587782991
SNPdbers587782991
MSV3drs587782991
GWAS Ctlgrs587782991
Max Magnitude0
ClinVar
Risk rs587782991(;)
Alt rs587782991(;)
Reference rs587782991(CTT;CTT)
Significance Pathogenic
Disease Delayed speech and language development Global developmental delay Intellectual disability Neonatal hypotonia Seizures Mental retardation
Variation info
Gene PURA
CLNDBN Delayed speech and language development Global developmental delay Intellectual disability Neonatal hypotonia Seizures Mental retardation, autosomal dominant 31
Reversed 0
HGVS NC_000005.9:g.139494578_139494580delTCT
CLNSRC OMIM Allelic Variant
CLNACC RCV000144521.1, RCV000149569.3,