ENTPD1-AS1

ENTPD1 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 10:95732716-96090356

Links

ENSG00000226688 ∙ NCBI:728558 ∙ ∙ HGNC:45203 ∙ ∙ ∙ 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 ENTPD1-AS1 gene.

• Hereditary spastic paraplegia 64 (117 variants)
• Inborn genetic diseases (44 variants)
• not provided (41 variants)
• Hereditary spastic paraplegia (21 variants)
• Microcephaly;Polymicrogyria;Global developmental delay (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ENTPD1-AS1 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)				1		1
splice region						0
non coding	6	1	103	55	23	188
Total	6	1	103	56	23

Highest pathogenic variant AF is 0.0000263

Variants in ENTPD1-AS1

This is a list of pathogenic ClinVar variants found in the ENTPD1-AS1 region.

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

Position	Type	Phenotype	Significance	ClinVar
10-95755380-G-A		Hereditary spastic paraplegia 64	Benign (Nov 29, 2022)
10-95755766-G-A		Hereditary spastic paraplegia 64	Conflicting classifications of pathogenicity (Jul 01, 2024)
10-95755831-T-C			Benign (Apr 08, 2021)
10-95756154-A-C		Hereditary spastic paraplegia	Uncertain significance (Dec 22, 2016)
10-95756268-T-C		Hereditary spastic paraplegia 64	Likely benign (Dec 03, 2021)
10-95756521-GT-G			Benign (Apr 16, 2021)
10-95823211-T-C			Likely benign (May 11, 2021)
10-95823221-C-T		Hereditary spastic paraplegia 64	Likely benign (Jan 08, 2024)
10-95823224-C-T		Hereditary spastic paraplegia 64	Likely benign (Jul 12, 2023)
10-95823239-T-G		Hereditary spastic paraplegia 64 • Inborn genetic diseases	Uncertain significance (May 24, 2023)
10-95823244-C-T		Hereditary spastic paraplegia 64 • ENTPD1-related disorder	Likely benign (Feb 01, 2023)
10-95823245-G-A		Global developmental delay;Microcephaly;Polymicrogyria • Hereditary spastic paraplegia 64 • Hereditary spastic paraplegia	Conflicting classifications of pathogenicity (Oct 01, 2024)
10-95823249-A-C		Inborn genetic diseases	Uncertain significance (Aug 08, 2022)
10-95823259-C-T		Hereditary spastic paraplegia 64	Likely benign (Jan 22, 2024)
10-95823263-A-G		Hereditary spastic paraplegia 64	Uncertain significance (Sep 19, 2023)
10-95823284-G-T		Inborn genetic diseases	Uncertain significance (Jan 07, 2022)
10-95823298-C-G		Hereditary spastic paraplegia 64	Uncertain significance (Sep 10, 2021)
10-95823354-A-C		Inborn genetic diseases	Uncertain significance (Mar 20, 2023)
10-95823358-C-T		Hereditary spastic paraplegia 64	Likely benign (Oct 31, 2022)
10-95823359-G-A		Hereditary spastic paraplegia	Uncertain significance (Jun 01, 2019)
10-95823374-A-G		Hereditary spastic paraplegia 64	Uncertain significance (May 26, 2020)
10-95839678-G-A		Hereditary spastic paraplegia 64	Likely benign (Jan 09, 2023)
10-95839680-G-A		Hereditary spastic paraplegia 64	Likely benign (Feb 14, 2023)
10-95839692-A-G		Inborn genetic diseases	Uncertain significance (Aug 13, 2021)
10-95839711-G-C		Hereditary spastic paraplegia 64	Likely benign (Aug 09, 2022)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP