ENO1P1

enolase 1 pseudogene 1

Basic information

Region (hg38): 1:236483165-236484468

Previous symbols: [ "ENO1P" ]

Links

ENSG00000244457 ∙ NCBI:2025 ∙ ∙ HGNC:3352 ∙ ∙ ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the ENO1P1 gene.

• Hypohidrotic ectodermal dysplasia (33 variants)
• Hypohidrotic Ectodermal Dysplasia, Recessive (20 variants)
• not provided (6 variants)
• Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive (4 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ENO1P1 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense						0
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			25	9	5	39
Total	0	0	25	9	5

Variants in ENO1P1

This is a list of pathogenic ClinVar variants found in the ENO1P1 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
1-236483207-C-T		Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive	Uncertain significance (Apr 27, 2017)
1-236483235-T-C		Hypohidrotic Ectodermal Dysplasia, Recessive • Hypohidrotic ectodermal dysplasia	Uncertain significance (Jan 13, 2018)
1-236483277-G-A		Hypohidrotic Ectodermal Dysplasia, Recessive	Uncertain significance (Jun 14, 2016)
1-236483327-A-C		Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive	Likely benign (Apr 27, 2017)
1-236483331-G-A		Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive	Likely benign (Apr 27, 2017)
1-236483368-C-T		Hypohidrotic Ectodermal Dysplasia, Recessive • Hypohidrotic ectodermal dysplasia	Uncertain significance (Jan 12, 2018)
1-236483395-G-T		Hypohidrotic Ectodermal Dysplasia, Recessive • Hypohidrotic ectodermal dysplasia	Uncertain significance (Jan 13, 2018)
1-236483406-A-C		Hypohidrotic ectodermal dysplasia	Uncertain significance (Jan 13, 2018)
1-236483414-G-A		Hypohidrotic ectodermal dysplasia	Uncertain significance (Mar 02, 2018)
1-236483512-C-T		Hypohidrotic Ectodermal Dysplasia, Recessive • Hypohidrotic ectodermal dysplasia	Uncertain significance (Jan 13, 2018)
1-236483569-C-T		Hypohidrotic ectodermal dysplasia	Uncertain significance (Jan 22, 2018)
1-236483570-G-A		Hypohidrotic Ectodermal Dysplasia, Recessive • Hypohidrotic ectodermal dysplasia	Uncertain significance (Jan 13, 2018)
1-236483605-C-T		Hypohidrotic ectodermal dysplasia	Benign (Jan 13, 2018)
1-236483615-A-G		Hypohidrotic ectodermal dysplasia	Benign (Jan 13, 2018)
1-236483616-A-G		Hypohidrotic Ectodermal Dysplasia, Recessive • Hypohidrotic ectodermal dysplasia	Conflicting classifications of pathogenicity (Jan 13, 2018)
1-236483620-C-T		Hypohidrotic Ectodermal Dysplasia, Recessive • Hypohidrotic ectodermal dysplasia	Uncertain significance (Jan 13, 2018)
1-236483653-G-A		Hypohidrotic ectodermal dysplasia	Uncertain significance (Jan 13, 2018)
1-236483661-A-G		Hypohidrotic ectodermal dysplasia	Uncertain significance (Jan 15, 2018)
1-236483721-C-T		Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive	Uncertain significance (Apr 27, 2017)
1-236483798-G-A		Hypohidrotic Ectodermal Dysplasia, Recessive • Hypohidrotic ectodermal dysplasia	Uncertain significance (Jan 13, 2018)
1-236483823-A-G		Hypohidrotic ectodermal dysplasia	Benign (Jan 13, 2018)
1-236483899-C-T		Hypohidrotic ectodermal dysplasia	Uncertain significance (Jan 13, 2018)
1-236483911-C-T		Hypohidrotic ectodermal dysplasia	Uncertain significance (Jan 12, 2018)
1-236483952-T-G		Hypohidrotic ectodermal dysplasia	Uncertain significance (Jan 12, 2018)
1-236484087-C-T		Hypohidrotic Ectodermal Dysplasia, Recessive • Hypohidrotic ectodermal dysplasia	Conflicting classifications of pathogenicity (Jan 13, 2018)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Haploinsufficiency Scores

• pHI: 0.0643