ENO1P4

enolase 1 pseudogene 4

Basic information

Region (hg38): 2:201621646-201623430

Links

ENSG00000241790 ∙ ∙ ∙ HGNC:37945 ∙ ∙ ∙ 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 ENO1P4 gene.

• Joubert syndrome 14 (41 variants)
• not provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ENO1P4 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			29	11	1	41
Total	0	0	29	11	1

Variants in ENO1P4

This is a list of pathogenic ClinVar variants found in the ENO1P4 region.

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

Position	Type	Phenotype	Significance	ClinVar
2-201621673-C-A		Joubert syndrome 14	Uncertain significance (Jan 12, 2018)
2-201621760-G-C		Joubert syndrome 14	Uncertain significance (Jan 13, 2018)
2-201621775-A-C		Joubert syndrome 14	Likely benign (Jan 12, 2018)
2-201621790-T-C		Joubert syndrome 14	Uncertain significance (Jan 12, 2018)
2-201621807-G-T		Joubert syndrome 14	Uncertain significance (Feb 16, 2018)
2-201621824-A-C		Joubert syndrome 14	Likely benign (Jan 12, 2018)
2-201621906-G-A		Joubert syndrome 14	Likely benign (Jan 13, 2018)
2-201621948-T-C		Joubert syndrome 14	Uncertain significance (Jan 12, 2018)
2-201622075-C-T		Joubert syndrome 14	Likely benign (Jan 12, 2018)
2-201622113-C-G		Joubert syndrome 14	Likely benign (Jan 12, 2018)
2-201622114-G-A		Joubert syndrome 14	Uncertain significance (Jan 13, 2018)
2-201622118-T-C		Joubert syndrome 14	Likely benign (Jan 12, 2018)
2-201622211-A-G		Joubert syndrome 14	Uncertain significance (Jan 13, 2018)
2-201622280-G-C		Joubert syndrome 14	Likely benign (Jan 13, 2018)
2-201622290-C-T		Joubert syndrome 14	Uncertain significance (Jan 15, 2018)
2-201622365-C-T		Joubert syndrome 14	Uncertain significance (Jan 13, 2018)
2-201622376-C-T		Joubert syndrome 14	Uncertain significance (Jan 12, 2018)
2-201622420-G-A		Joubert syndrome 14	Uncertain significance (Jan 13, 2018)
2-201622493-C-T		Joubert syndrome 14	Uncertain significance (Jan 13, 2018)
2-201622600-C-T		Joubert syndrome 14	Uncertain significance (Jan 12, 2018)
2-201622649-A-G		Joubert syndrome 14	Uncertain significance (Jan 13, 2018)
2-201622652-A-C		Joubert syndrome 14	Uncertain significance (Jan 12, 2018)
2-201622667-C-T		Joubert syndrome 14	Likely benign (Jan 13, 2018)
2-201622694-C-T		Joubert syndrome 14	Uncertain significance (Jan 13, 2018)
2-201622695-G-A		Joubert syndrome 14	Uncertain significance (Jan 13, 2018)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP