rs587782992

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(CT;CT)	0	common in clinvar

Make rs587782992(-;-)

Make rs587782992(-;TC)

Make rs587782992(TC;TC)

Reference

GRCh38.p2 38.2/144

Chromosome

5

Position

140114488

Gene

PURA

is a	snp
is	mentioned by
dbSNP	rs587782992
dbSNP (classic)	rs587782992
ClinGen	rs587782992
ebi	rs587782992
HLI	rs587782992
Exac	rs587782992
Gnomad	rs587782992
Varsome	rs587782992
LitVar	rs587782992
Map	rs587782992
PheGenI	rs587782992
Biobank	rs587782992
1000 genomes	rs587782992
hgdp	rs587782992
ensembl	rs587782992
geneview	rs587782992
scholar	rs587782992
google	rs587782992
pharmgkb	rs587782992
gwascentral	rs587782992
openSNP	rs587782992
23andMe	rs587782992
SNPshot	rs587782992
SNPdbe	rs587782992
MSV3d	rs587782992
GWAS Ctlg	rs587782992

Max Magnitude

0

ClinVar
Risk	rs587782992(-;-)
Alt	rs587782992(-;-)
Reference	Rs587782992(CT;CT)
Significance	Pathogenic
Disease	Delayed speech and language development Global developmental delay Intellectual disability Neonatal hypotonia Mental retardation
Variation	info
Gene	PURA
CLNDBN	Delayed speech and language development Global developmental delay Intellectual disability Neonatal hypotonia Mental retardation, autosomal dominant 31
Reversed	0
HGVS	NC_000005.9:g.139494073_139494074delTC
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000144522.1, RCV000149570.4,