PURA Chromosome 5

Purine rich element binding protein A

187 variants 187 Health Risk

Upload your DNA to see your personal genotypes for variants in PURA.

What This Gene Does

This gene product is a sequence-specific, single-stranded DNA-binding protein. It binds preferentially to the single strand of the purine-rich element termed PUR, which is present at origins of replication and in gene flanking regions in a variety of eukaryotes from yeasts through humans. Thus, it is implicated in the control of both DNA replication and transcription. Deletion of this gene has been associated with myelodysplastic syndrome and acute myelogenous leukemia. [provided by RefSeq, Jul 2008]

Associated Conditions (16)

PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome

Inborn genetic diseases

Intellectual disability

PURA-related disorder

See cases

PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation

Global developmental delay

Neonatal hypotonia

Delayed speech and language development

Seizure

Epileptic encephalopathy

PURA Syndrome

Limb dystonia

Generalized hypotonia

Apnea

Abnormality of the nervous system

Key Variants

RS1046152089

Conflicting classifications of pathogenicity

Health Risk

RS1085307826

Conflicting classifications of pathogenicity

Health Risk

RS1271325628

Conflicting classifications of pathogenicity

Health Risk

RS1335796595

Conflicting classifications of pathogenicity

Health Risk

RS142688247

Conflicting classifications of pathogenicity

Health Risk

RS1430796646

Conflicting classifications of pathogenicity

Health Risk

RS1554129049

Conflicting classifications of pathogenicity

Health Risk

RS1581036537

Conflicting classifications of pathogenicity

Health Risk

RS1763036938

Conflicting classifications of pathogenicity

Health Risk

RS1763038797

Conflicting classifications of pathogenicity

Health Risk

RS2126749113

Conflicting classifications of pathogenicity

Health Risk

RS2479504573

Conflicting classifications of pathogenicity

Health Risk

All Variants (187)

RSID	Category	Clinical Significance	Conditions
RS2479505036	Health Risk	Pathogenic	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome, PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
RS2479505705	Health Risk	Pathogenic	Inborn genetic diseases, Inborn genetic diseases
RS2479505873	Health Risk	Pathogenic	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome, PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
RS2479506426	Health Risk	Pathogenic	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome, PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
RS587782991	Health Risk	Pathogenic	Global developmental delay, Neonatal hypotonia, Intellectual disability
RS587782993	Health Risk	Pathogenic	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome, Delayed speech and language development, Seizure
RS587782994	Health Risk	Pathogenic	Global developmental delay, Neonatal hypotonia, Intellectual disability
RS587782997	Health Risk	Pathogenic	Global developmental delay, Intellectual disability, Neonatal hypotonia
RS587782998	Health Risk	Pathogenic	Global developmental delay, Intellectual disability, Neonatal hypotonia
RS587782999	Health Risk	Pathogenic	Global developmental delay, Intellectual disability, Neonatal hypotonia
RS587783000	Health Risk	Pathogenic	Global developmental delay, Intellectual disability, Neonatal hypotonia
RS786204833	Health Risk	Pathogenic	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome, PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
RS786204834	Health Risk	Pathogenic	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome, PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
RS793888532	Health Risk	Pathogenic	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome, PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
RS793888533	Health Risk	Pathogenic	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome, PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
RS793888537	Health Risk	Pathogenic	—
RS793888538	Health Risk	Pathogenic	—
RS793888539	Health Risk	Pathogenic	—
RS797044944	Health Risk	Pathogenic	Inborn genetic diseases, Inborn genetic diseases
RS868138895	Health Risk	Pathogenic	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome, PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
RS879255390	Health Risk	Pathogenic	—
RS886041754	Health Risk	Pathogenic	PURA Syndrome, PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome, PURA Syndrome
RS886041894	Health Risk	Pathogenic	—
RS886042017	Health Risk	Pathogenic	—
RS886042229	Health Risk	Pathogenic	—
RS1064795165	Health Risk	Pathogenic/Likely pathogenic	Inborn genetic diseases, PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation, Inborn genetic diseases
RS1554129113	Health Risk	Pathogenic/Likely pathogenic	Inborn genetic diseases, PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome, Inborn genetic diseases
RS1561793219	Health Risk	Pathogenic/Likely pathogenic	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome, PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
RS1581036015	Health Risk	Pathogenic/Likely pathogenic	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome, PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
RS1581036262	Health Risk	Pathogenic/Likely pathogenic	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome, PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
RS1581036558	Health Risk	Pathogenic/Likely pathogenic	Limb dystonia, Generalized hypotonia, Apnea
RS1763053854	Health Risk	Pathogenic/Likely pathogenic	See cases, PURA Syndrome, PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
RS587782996	Health Risk	Pathogenic/Likely pathogenic	Seizure, Neonatal hypotonia, Intellectual disability
RS587783001	Health Risk	Pathogenic/Likely pathogenic	Global developmental delay, Neonatal hypotonia, Intellectual disability
RS786204835	Health Risk	Pathogenic/Likely pathogenic	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome, Inborn genetic diseases, PURA Syndrome
RS793888527	Health Risk	Pathogenic/Likely pathogenic	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome, Inborn genetic diseases, PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
RS793888530	Health Risk	Pathogenic/Likely pathogenic	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome, PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome, PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome

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