ENO1P1

Gene

enolase 1 pseudogene 1

Gene summary

No gene description available in the current model. Review primary literature for detailed gene function and characteristics.

Previous symbols:
  • ENO1P

MANE transcript

N/A

Inheritance

—

ClinVar variants

—

Top phenotype

Hypohidrotic ectodermal dysplasia

Max pathogenic AF

—

Genomic locus

chr1:236,483,165-236,484,468

External References & Databases

GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to ENO1P1 variants in ClinVar

4 Conditions Cataloged
Hypohidrotic ectodermal dysplasiaTotal: 33
Hypohidrotic Ectodermal Dysplasia, RecessiveTotal: 20
not providedTotal: 6
Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessiveTotal: 4

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript . Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

EffectPLPVUSLBBSum
synonymous
0
missense
0
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total000000
Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 0 of 0 transcripts
Transcript IDSourceProtein IDCoding ExonsMANE Status
No transcripts match your selected source or search query.

dbNSFP Gene Annotations

Source: dbNSFP

For research and educational, non-commercial use only. Not for clinical or diagnostic use. GeneBe does not provide medical advice. Data use for AI modeling is prohibited: if used, the cost is $0.001 per byte of downloaded uncompressed data.